Canonical Allele Identifier: CA242470020

Gene: PAH

Linked Data

• dbSNP Id: rs372384804
• gnomAD v2: 12-103245088-G-T
• gnomAD v3: 12-102851310-G-T
• gnomAD v4: 12-102851310-G-T
• MyVariant Identifiers: chr12:g.103245088G>T (hg19) ; chr12:g.102851310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851310G>T , CM000674.2:g.102851310G>T	GRCh38
NC_000012.11:g.103245088G>T , CM000674.1:g.103245088G>T	GRCh37
NC_000012.10:g.101769218G>T	NCBI36
NG_008690.1:g.71293C>A
NG_008690.2:g.112101C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+377C>A MANE Select	ENSP00000448059.1:n.912+377C>A
ENST00000307000.7:c.897+377C>A	ENSP00000303500.2:n.897+377C>A
ENST00000549247.6:n.671+377C>A
ENST00000551114.2:n.574+377C>A
ENST00000553106.5:c.912+377C>A	ENSP00000448059.1:n.912+377C>A
ENST00000635477.1:c.73+377C>A
NM_000277.1:c.912+377C>A	NP_000268.1:n.912+377C>A
XM_011538422.1:c.912+377C>A	XP_011536724.1:n.912+377C>A
NM_000277.2:c.912+377C>A	NP_000268.1:n.912+377C>A
NM_001354304.1:c.912+377C>A	NP_001341233.1:n.912+377C>A
NM_000277.3:c.912+377C>A MANE Select	NP_000268.1:n.912+377C>A
NM_001354304.2:c.912+377C>A	NP_001341233.1:n.912+377C>A