Canonical Allele Identifier: CA229676
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102773
dbSNP Id: rs62514933

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855189C>A , CM000674.2:g.102855189C>A GRCh38
NC_000012.11:g.103248967C>A , CM000674.1:g.103248967C>A GRCh37
NC_000012.10:g.101773097C>A NCBI36
NG_008690.1:g.67414G>T
NG_008690.2:g.108222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.653G>T MANE Select ENSP00000448059.1:p.Gly218Val
ENST00000307000.7:c.638G>T ENSP00000303500.2:p.Gly213Val
ENST00000549111.5:n.749G>T
ENST00000553106.5:c.653G>T ENSP00000448059.1:p.Gly218Val
NM_000277.1:c.653G>T NP_000268.1:p.Gly218Val
XM_011538422.1:c.653G>T XP_011536724.1:p.Gly218Val
NM_000277.2:c.653G>T NP_000268.1:p.Gly218Val
NM_001354304.1:c.653G>T NP_001341233.1:p.Gly218Val
XM_017019370.2:c.653G>T XP_016874859.1:p.Gly218Val
NM_000277.3:c.653G>T MANE Select NP_000268.1:p.Gly218Val
NM_001354304.2:c.653G>T NP_001341233.1:p.Gly218Val