Canonical Allele Identifier: CA682819104

Gene: PAH

Linked Data

• dbSNP Id: rs1296190613
• gnomAD v3: 12-102917185-G-T
• gnomAD v4: 12-102917185-G-T
• MyVariant Identifiers: chr12:g.103310963G>T (hg19) ; chr12:g.102917185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917185G>T , CM000674.2:g.102917185G>T	GRCh38
NC_000012.11:g.103310963G>T , CM000674.1:g.103310963G>T	GRCh37
NC_000012.10:g.101835093G>T	NCBI36
NG_008690.1:g.5418C>A
NG_008690.2:g.46226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-55C>A MANE Select	ENSP00000448059.1:n.-55C>A
ENST00000307000.7:c.-202C>A	ENSP00000303500.2:n.-202C>A
ENST00000546708.5:n.533C>A
ENST00000546844.1:c.-55C>A	ENSP00000446658.1:n.-55C>A
ENST00000547319.1:n.257C>A
ENST00000549111.5:n.42C>A
ENST00000551337.5:c.-55C>A	ENSP00000447620.1:n.-55C>A
ENST00000551988.5:n.35C>A
ENST00000553106.5:c.-55C>A	ENSP00000448059.1:n.-55C>A
ENST00000635500.1:n.29-4287C>A
NM_000277.1:c.-55C>A	NP_000268.1:n.-55C>A
XM_011538422.1:c.-55C>A	XP_011536724.1:n.-55C>A
NM_000277.2:c.-55C>A	NP_000268.1:n.-55C>A
NM_001354304.1:c.-55C>A	NP_001341233.1:n.-55C>A
XM_017019370.2:c.-55C>A	XP_016874859.1:n.-55C>A
NM_000277.3:c.-55C>A MANE Select	NP_000268.1:n.-55C>A
NM_001354304.2:c.-55C>A	NP_001341233.1:n.-55C>A