Canonical Allele Identifier: CA386493330
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237536T>G (hg19) chr12:g.102843758T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843758T>G , CM000674.2:g.102843758T>G GRCh38
NC_000012.11:g.103237536T>G , CM000674.1:g.103237536T>G GRCh37
NC_000012.10:g.101761666T>G NCBI36
NG_008690.1:g.78845A>C
NG_008690.2:g.119653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1087A>C MANE Select ENSP00000448059.1:p.Lys363Gln
ENST00000307000.7:c.1072A>C ENSP00000303500.2:p.Lys358Gln
ENST00000549247.6:n.846A>C
ENST00000551114.2:n.749A>C
ENST00000553106.5:c.1087A>C ENSP00000448059.1:p.Lys363Gln
ENST00000635477.1:c.191A>C
ENST00000635528.1:n.602A>C
NM_000277.1:c.1087A>C NP_000268.1:p.Lys363Gln
XM_011538422.1:c.1030A>C XP_011536724.1:p.Lys344Gln
NM_000277.2:c.1087A>C NP_000268.1:p.Lys363Gln
NM_001354304.1:c.1087A>C NP_001341233.1:p.Lys363Gln
NM_000277.3:c.1087A>C MANE Select NP_000268.1:p.Lys363Gln
NM_001354304.2:c.1087A>C NP_001341233.1:p.Lys363Gln
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