Canonical Allele Identifier: CA10603804
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 281073
ClinVar RCV Id: RCV000350174 RCV000721175
dbSNP Id: rs886042096
MyVariant Identifiers: chr12:g.103238196G>A (hg19) chr12:g.102844418G>A (hg38)
ERepo: CA10603804/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844418G>A , CM000674.2:g.102844418G>A GRCh38
NC_000012.11:g.103238196G>A , CM000674.1:g.103238196G>A GRCh37
NC_000012.10:g.101762326G>A NCBI36
NG_008690.1:g.78185C>T
NG_008690.2:g.118993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.983C>T MANE Select ENSP00000448059.1:p.Thr328Ile
ENST00000307000.7:c.968C>T ENSP00000303500.2:p.Thr323Ile
ENST00000549247.6:n.742C>T
ENST00000551114.2:n.645C>T
ENST00000553106.5:c.983C>T ENSP00000448059.1:p.Thr328Ile
ENST00000635477.1:c.87C>T
ENST00000635528.1:n.498C>T
NM_000277.1:c.983C>T NP_000268.1:p.Thr328Ile
XM_011538422.1:c.926C>T XP_011536724.1:p.Thr309Ile
NM_000277.2:c.983C>T NP_000268.1:p.Thr328Ile
NM_001354304.1:c.983C>T NP_001341233.1:p.Thr328Ile
NM_000277.3:c.983C>T MANE Select NP_000268.1:p.Thr328Ile
NM_001354304.2:c.983C>T NP_001341233.1:p.Thr328Ile
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