Canonical Allele Identifier: CA275338
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102723
ClinVar RCV Id: RCV000088971 RCV000179282
dbSNP Id: rs199475575
ExAC: 12:103249094 G / A
gnomAD v2: 12-103249094-G-A
gnomAD v3: 12-102855316-G-A
gnomAD v4: 12-102855316-G-A
MyVariant Identifiers: chr12:g.103249094G>A (hg19) chr12:g.102855316G>A (hg38)
ERepo: CA275338/MONDO:0009861/006
PubMed: PMID:8268925 PMID:10394930 PMID:10598814 PMID:11524738 PMID:12655550 PMID:12655553 PMID:12836060 PMID:15464430 PMID:15503242 PMID:17935162 PMID:18798839 PMID:19147918 PMID:19786003 PMID:20920871 PMID:21147011 PMID:21871829 PMID:22763404 PMID:23500595 PMID:23716935 PMID:23891399 PMID:24301756 PMID:25525159 PMID:26322415 PMID:26413448
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855316G>A , CM000674.2:g.102855316G>A GRCh38
NC_000012.11:g.103249094G>A , CM000674.1:g.103249094G>A GRCh37
NC_000012.10:g.101773224G>A NCBI36
NG_008690.1:g.67287C>T
NG_008690.2:g.108095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.526C>T MANE Select ENSP00000448059.1:p.Arg176Ter
ENST00000307000.7:c.511C>T ENSP00000303500.2:p.Arg171Ter
ENST00000549111.5:n.622C>T
ENST00000551988.5:n.547C>T
ENST00000553106.5:c.526C>T ENSP00000448059.1:p.Arg176Ter
NM_000277.1:c.526C>T NP_000268.1:p.Arg176Ter
XM_011538422.1:c.526C>T XP_011536724.1:p.Arg176Ter
NM_000277.2:c.526C>T NP_000268.1:p.Arg176Ter
NM_001354304.1:c.526C>T NP_001341233.1:p.Arg176Ter
XM_017019370.2:c.526C>T XP_016874859.1:p.Arg176Ter
NM_000277.3:c.526C>T MANE Select NP_000268.1:p.Arg176Ter
NM_001354304.2:c.526C>T NP_001341233.1:p.Arg176Ter
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