Canonical Allele Identifier: CA951234446

Gene: PAH

Linked Data

• dbSNP Id: rs1875123593
• gnomAD v3: 12-102851060-G-A
• gnomAD v4: 12-102851060-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851060G>A , CM000674.2:g.102851060G>A	GRCh38
NC_000012.11:g.103244838G>A , CM000674.1:g.103244838G>A	GRCh37
NC_000012.10:g.101768968G>A	NCBI36
NG_008690.1:g.71543C>T
NG_008690.2:g.112351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+627C>T MANE Select	ENSP00000448059.1:n.912+627C>T
ENST00000307000.7:c.897+627C>T	ENSP00000303500.2:n.897+627C>T
ENST00000549247.6:n.671+627C>T
ENST00000551114.2:n.574+627C>T
ENST00000553106.5:c.912+627C>T	ENSP00000448059.1:n.912+627C>T
ENST00000635477.1:c.73+627C>T
NM_000277.1:c.912+627C>T	NP_000268.1:n.912+627C>T
XM_011538422.1:c.912+627C>T	XP_011536724.1:n.912+627C>T
NM_000277.2:c.912+627C>T	NP_000268.1:n.912+627C>T
NM_001354304.1:c.912+627C>T	NP_001341233.1:n.912+627C>T
NM_000277.3:c.912+627C>T MANE Select	NP_000268.1:n.912+627C>T
NM_001354304.2:c.912+627C>T	NP_001341233.1:n.912+627C>T