Canonical Allele Identifier: CA242743413
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs867577014
COSMIC: COSM3455197
MyVariant Identifiers: chr12:g.103234185G>A (hg19) chr12:g.102840407G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840407G>A , CM000674.2:g.102840407G>A GRCh38
NC_000012.11:g.103234185G>A , CM000674.1:g.103234185G>A GRCh37
NC_000012.10:g.101758315G>A NCBI36
NG_008690.1:g.82196C>T
NG_008690.2:g.123004C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1308C>T MANE Select ENSP00000448059.1:p.Ser436=
ENST00000307000.7:c.1293C>T ENSP00000303500.2:p.Ser431=
ENST00000551114.2:n.970C>T
ENST00000553106.5:c.1308C>T ENSP00000448059.1:p.Ser436=
ENST00000635477.1:c.412C>T
ENST00000635528.1:n.823C>T
NM_000277.1:c.1308C>T NP_000268.1:p.Ser436=
XM_011538422.1:c.1251C>T XP_011536724.1:p.Ser417=
NM_000277.2:c.1308C>T NP_000268.1:p.Ser436=
NM_001354304.1:c.1308C>T NP_001341233.1:p.Ser436=
NM_000277.3:c.1308C>T MANE Select NP_000268.1:p.Ser436=
NM_001354304.2:c.1308C>T NP_001341233.1:p.Ser436=
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