Canonical Allele Identifier: CA519704946
Gene: MECP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153297831T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154032380T>G , CM000685.2:g.154032380T>G GRCh38
NC_000023.10:g.153297831T>G , CM000685.1:g.153297831T>G GRCh37
NC_000023.9:g.152951025T>G NCBI36
NG_007107.2:g.109748A>C
NG_007107.3:g.109724A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303391.11:c.204A>C MANE Plus Clinical ENSP00000301948.6:p.Ser68=
ENST00000453960.7:c.240A>C MANE Select ENSP00000395535.2:p.Ser80=
ENST00000303391.10:c.204A>C ENSP00000301948.6:p.Ser68=
ENST00000369957.5:c.*258A>C ENSP00000358973.4:n.*258A>C
ENST00000407218.5:c.240A>C ENSP00000384865.2:p.Ser80=
ENST00000453960.6:c.240A>C ENSP00000395535.2:p.Ser80=
ENST00000486506.5:n.2552A>C
ENST00000496908.5:n.335A>C
ENST00000611468.1:c.192A>C ENSP00000479736.1:p.Ser64=
ENST00000619732.4:c.204A>C ENSP00000480973.1:p.Ser68=
ENST00000622433.4:c.192A>C ENSP00000484470.1:p.Ser64=
ENST00000628176.2:c.204A>C ENSP00000486978.1:p.Ser68=
ENST00000631210.1:n.483A>C
NM_001110792.1:c.240A>C NP_001104262.1:p.Ser80=
NM_001316337.1:c.-76A>C NP_001303266.1:n.-76A>C
NM_004992.3:c.204A>C NP_004983.1:p.Ser68=
XM_005274681.3:c.204A>C XP_005274738.1:p.Ser68=
XM_005274682.3:c.-76A>C XP_005274739.1:n.-76A>C
XM_005274683.3:c.-76A>C XP_005274740.1:n.-76A>C
XM_011531166.1:c.-76A>C XP_011529468.1:n.-76A>C
XM_006724819.3:c.-357A>C XP_006724882.1:n.-357A>C
XM_011531166.2:c.-76A>C XP_011529468.1:n.-76A>C
XM_024452383.1:c.-76A>C XP_024308151.1:n.-76A>C
XM_024452384.1:c.-76A>C XP_024308152.1:n.-76A>C
NM_001110792.2:c.240A>C MANE Select NP_001104262.1:p.Ser80=
NM_001316337.2:c.-76A>C NP_001303266.1:n.-76A>C
NM_001369391.2:c.-76A>C NP_001356320.1:n.-76A>C
NM_001369392.2:c.-76A>C NP_001356321.1:n.-76A>C
NM_001369393.2:c.-76A>C NP_001356322.1:n.-76A>C
NM_001369394.1:c.-76A>C NP_001356323.1:n.-76A>C
NM_001369394.2:c.-76A>C NP_001356323.1:n.-76A>C
NM_001386137.1:c.-357A>C NP_001373066.1:n.-357A>C
NM_001386138.1:c.-357A>C NP_001373067.1:n.-357A>C
NM_001386139.1:c.-357A>C NP_001373068.1:n.-357A>C
NM_004992.4:c.204A>C MANE Plus Clinical NP_004983.1:p.Ser68=