Canonical Allele Identifier: CA2620512189

Gene: PAH

Linked Data

• gnomAD v4: 12-102851849-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851849G>A , CM000674.2:g.102851849G>A	GRCh38
NC_000012.11:g.103245627G>A , CM000674.1:g.103245627G>A	GRCh37
NC_000012.10:g.101769757G>A	NCBI36
NG_008690.1:g.70754C>T
NG_008690.2:g.111562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-93C>T MANE Select	ENSP00000448059.1:n.843-93C>T
ENST00000307000.7:c.828-93C>T	ENSP00000303500.2:n.828-93C>T
ENST00000549247.6:n.602-93C>T
ENST00000551114.2:n.412C>T
ENST00000553106.5:c.843-93C>T	ENSP00000448059.1:n.843-93C>T
ENST00000635477.1:c.4-93C>T
NM_000277.1:c.843-93C>T	NP_000268.1:n.843-93C>T
XM_011538422.1:c.843-93C>T	XP_011536724.1:n.843-93C>T
NM_000277.2:c.843-93C>T	NP_000268.1:n.843-93C>T
NM_001354304.1:c.843-93C>T	NP_001341233.1:n.843-93C>T
NM_000277.3:c.843-93C>T MANE Select	NP_000268.1:n.843-93C>T
NM_001354304.2:c.843-93C>T	NP_001341233.1:n.843-93C>T