Canonical Allele Identifier: CA386303896
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1451895979
gnomAD v4: 12-102917123-G-A
MyVariant Identifiers: chr12:g.103310901G>A (hg19) chr12:g.102917123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917123G>A , CM000674.2:g.102917123G>A GRCh38
NC_000012.11:g.103310901G>A , CM000674.1:g.103310901G>A GRCh37
NC_000012.10:g.101835031G>A NCBI36
NG_008690.1:g.5480C>T
NG_008690.2:g.46288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.8C>T MANE Select ENSP00000448059.1:p.Thr3Ile
ENST00000307000.7:c.-140C>T ENSP00000303500.2:n.-140C>T
ENST00000546844.1:c.8C>T ENSP00000446658.1:p.Thr3Ile
ENST00000547319.1:n.319C>T
ENST00000549111.5:n.104C>T
ENST00000551337.5:c.8C>T ENSP00000447620.1:p.Thr3Ile
ENST00000551988.5:n.97C>T
ENST00000553106.5:c.8C>T ENSP00000448059.1:p.Thr3Ile
ENST00000635500.1:n.29-4225C>T
NM_000277.1:c.8C>T NP_000268.1:p.Thr3Ile
XM_011538422.1:c.8C>T XP_011536724.1:p.Thr3Ile
NM_000277.2:c.8C>T NP_000268.1:p.Thr3Ile
NM_001354304.1:c.8C>T NP_001341233.1:p.Thr3Ile
XM_017019370.2:c.8C>T XP_016874859.1:p.Thr3Ile
NM_000277.3:c.8C>T MANE Select NP_000268.1:p.Thr3Ile
NM_001354304.2:c.8C>T NP_001341233.1:p.Thr3Ile
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