Canonical Allele Identifier: CA6749061
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs150366430

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917080G>C , CM000674.2:g.102917080G>C GRCh38
NC_000012.11:g.103310858G>C , CM000674.1:g.103310858G>C GRCh37
NC_000012.10:g.101834988G>C NCBI36
NG_008690.1:g.5523C>G
NG_008690.2:g.46331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.51C>G MANE Select ENSP00000448059.1:p.Asp17Glu
ENST00000307000.7:c.-97C>G ENSP00000303500.2:n.-97C>G
ENST00000546844.1:c.51C>G ENSP00000446658.1:p.Asp17Glu
ENST00000547319.1:n.362C>G
ENST00000549111.5:n.147C>G
ENST00000550978.6:c.35C>G
ENST00000551337.5:c.51C>G ENSP00000447620.1:p.Asp17Glu
ENST00000551988.5:n.140C>G
ENST00000553106.5:c.51C>G ENSP00000448059.1:p.Asp17Glu
ENST00000635500.1:n.29-4182C>G
NM_000277.1:c.51C>G NP_000268.1:p.Asp17Glu
XM_011538422.1:c.51C>G XP_011536724.1:p.Asp17Glu
NM_000277.2:c.51C>G NP_000268.1:p.Asp17Glu
NM_001354304.1:c.51C>G NP_001341233.1:p.Asp17Glu
XM_017019370.2:c.51C>G XP_016874859.1:p.Asp17Glu
NM_000277.3:c.51C>G MANE Select NP_000268.1:p.Asp17Glu
NM_001354304.2:c.51C>G NP_001341233.1:p.Asp17Glu