Canonical Allele Identifier: CA2620512039

Gene: PAH

Linked Data

• gnomAD v4: 12-102851785-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851785G>T , CM000674.2:g.102851785G>T	GRCh38
NC_000012.11:g.103245563G>T , CM000674.1:g.103245563G>T	GRCh37
NC_000012.10:g.101769693G>T	NCBI36
NG_008690.1:g.70818C>A
NG_008690.2:g.111626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-29C>A MANE Select	ENSP00000448059.1:n.843-29C>A
ENST00000307000.7:c.828-29C>A	ENSP00000303500.2:n.828-29C>A
ENST00000549247.6:n.602-29C>A
ENST00000551114.2:n.476C>A
ENST00000553106.5:c.843-29C>A	ENSP00000448059.1:n.843-29C>A
ENST00000635477.1:c.4-29C>A
NM_000277.1:c.843-29C>A	NP_000268.1:n.843-29C>A
XM_011538422.1:c.843-29C>A	XP_011536724.1:n.843-29C>A
NM_000277.2:c.843-29C>A	NP_000268.1:n.843-29C>A
NM_001354304.1:c.843-29C>A	NP_001341233.1:n.843-29C>A
NM_000277.3:c.843-29C>A MANE Select	NP_000268.1:n.843-29C>A
NM_001354304.2:c.843-29C>A	NP_001341233.1:n.843-29C>A