Canonical Allele Identifier: CA398606687
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049278G>C (hg19) chr17:g.18145964G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145964G>C , CM000679.2:g.18145964G>C GRCh38
NC_000017.10:g.18049278G>C , CM000679.1:g.18049278G>C GRCh37
NC_000017.9:g.17990003G>C NCBI36
NG_011634.1:g.42259G>C
NG_011634.2:g.42259G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6366G>C MANE Select ENSP00000495481.1:p.Glu2122Asp
ENST00000205890.9:c.6366G>C ENSP00000205890.5:p.Glu2122Asp
ENST00000615845.4:c.6366G>C ENSP00000481642.1:p.Glu2122Asp
NM_016239.3:c.6366G>C NP_057323.3:p.Glu2122Asp
XM_011523917.1:c.6306G>C XP_011522219.1:p.Glu2102Asp
XM_011523918.1:c.6306G>C XP_011522220.1:p.Glu2102Asp
XM_011523921.1:c.6360G>C XP_011522223.1:p.Glu2120Asp
XR_934037.1:n.6965G>C
XR_934038.1:n.6965G>C
XM_011523918.2:c.6306G>C XP_011522220.1:p.Glu2102Asp
XM_017024714.2:c.6306G>C XP_016880203.1:p.Glu2102Asp
XM_017024715.2:c.6369G>C XP_016880204.1:p.Glu2123Asp
XM_024450781.1:c.6213+1372G>C XP_024306549.1:n.6213+1372G>C
NM_016239.4:c.6366G>C MANE Select NP_057323.3:p.Glu2122Asp
Search 100 bp 5'
Search 100 bp 3'