Canonical Allele Identifier: CA229515
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102650
dbSNP Id: rs62642929

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894776G>T , CM000674.2:g.102894776G>T GRCh38
NC_000012.11:g.103288554G>T , CM000674.1:g.103288554G>T GRCh37
NC_000012.10:g.101812684G>T NCBI36
NG_008690.1:g.27827C>A
NG_008690.2:g.68635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.311C>A MANE Select ENSP00000448059.1:p.Ala104Asp
ENST00000307000.7:c.296C>A ENSP00000303500.2:p.Ala99Asp
ENST00000546844.1:c.311C>A ENSP00000446658.1:p.Ala104Asp
ENST00000548928.1:n.233C>A
ENST00000549111.5:n.407C>A
ENST00000550978.6:c.295C>A
ENST00000551337.5:c.311C>A ENSP00000447620.1:p.Ala104Asp
ENST00000551988.5:n.400C>A
ENST00000553106.5:c.311C>A ENSP00000448059.1:p.Ala104Asp
NM_000277.1:c.311C>A NP_000268.1:p.Ala104Asp
XM_011538422.1:c.311C>A XP_011536724.1:p.Ala104Asp
NM_000277.2:c.311C>A NP_000268.1:p.Ala104Asp
NM_001354304.1:c.311C>A NP_001341233.1:p.Ala104Asp
XM_017019370.2:c.311C>A XP_016874859.1:p.Ala104Asp
NM_000277.3:c.311C>A MANE Select NP_000268.1:p.Ala104Asp
NM_001354304.2:c.311C>A NP_001341233.1:p.Ala104Asp