Canonical Allele Identifier: CA481375685
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136635910
MyVariant Identifiers: chr12:g.103237546T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843768T>A , CM000674.2:g.102843768T>A GRCh38
NC_000012.11:g.103237546T>A , CM000674.1:g.103237546T>A GRCh37
NC_000012.10:g.101761676T>A NCBI36
NG_008690.1:g.78835A>T
NG_008690.2:g.119643A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1077A>T MANE Select ENSP00000448059.1:p.Ser359=
ENST00000307000.7:c.1062A>T ENSP00000303500.2:p.Ser354=
ENST00000549247.6:n.836A>T
ENST00000551114.2:n.739A>T
ENST00000553106.5:c.1077A>T ENSP00000448059.1:p.Ser359=
ENST00000635477.1:c.181A>T
ENST00000635528.1:n.592A>T
NM_000277.1:c.1077A>T NP_000268.1:p.Ser359=
XM_011538422.1:c.1020A>T XP_011536724.1:p.Ser340=
NM_000277.2:c.1077A>T NP_000268.1:p.Ser359=
NM_001354304.1:c.1077A>T NP_001341233.1:p.Ser359=
NM_000277.3:c.1077A>T MANE Select NP_000268.1:p.Ser359=
NM_001354304.2:c.1077A>T NP_001341233.1:p.Ser359=
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