Canonical Allele Identifier: CA6749076
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs746106548

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917175G>A , CM000674.2:g.102917175G>A GRCh38
NC_000012.11:g.103310953G>A , CM000674.1:g.103310953G>A GRCh37
NC_000012.10:g.101835083G>A NCBI36
NG_008690.1:g.5428C>T
NG_008690.2:g.46236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-45C>T MANE Select ENSP00000448059.1:n.-45C>T
ENST00000307000.7:c.-192C>T ENSP00000303500.2:n.-192C>T
ENST00000546708.5:n.543C>T
ENST00000546844.1:c.-45C>T ENSP00000446658.1:n.-45C>T
ENST00000547319.1:n.267C>T
ENST00000549111.5:n.52C>T
ENST00000551337.5:c.-45C>T ENSP00000447620.1:n.-45C>T
ENST00000551988.5:n.45C>T
ENST00000553106.5:c.-45C>T ENSP00000448059.1:n.-45C>T
ENST00000635500.1:n.29-4277C>T
NM_000277.1:c.-45C>T NP_000268.1:n.-45C>T
XM_011538422.1:c.-45C>T XP_011536724.1:n.-45C>T
NM_000277.2:c.-45C>T NP_000268.1:n.-45C>T
NM_001354304.1:c.-45C>T NP_001341233.1:n.-45C>T
XM_017019370.2:c.-45C>T XP_016874859.1:n.-45C>T
NM_000277.3:c.-45C>T MANE Select NP_000268.1:n.-45C>T
NM_001354304.2:c.-45C>T NP_001341233.1:n.-45C>T