Canonical Allele Identifier: CA2620508131

Gene: PAH

Linked Data

• gnomAD v4: 12-102912968-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912968T>C , CM000674.2:g.102912968T>C	GRCh38
NC_000012.11:g.103306746T>C , CM000674.1:g.103306746T>C	GRCh37
NC_000012.10:g.101830876T>C	NCBI36
NG_008690.1:g.9635A>G
NG_008690.2:g.50443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.61-70A>G MANE Select	ENSP00000448059.1:n.61-70A>G
ENST00000307000.7:c.46-70A>G	ENSP00000303500.2:n.46-70A>G
ENST00000546844.1:c.61-70A>G	ENSP00000446658.1:n.61-70A>G
ENST00000548677.2:n.148-70A>G
ENST00000549111.5:n.157-70A>G
ENST00000550978.6:c.45-70A>G
ENST00000551337.5:c.61-70A>G	ENSP00000447620.1:n.61-70A>G
ENST00000551988.5:n.150-70A>G
ENST00000553106.5:c.61-70A>G	ENSP00000448059.1:n.61-70A>G
ENST00000635500.1:n.29-70A>G
NM_000277.1:c.61-70A>G	NP_000268.1:n.61-70A>G
XM_011538422.1:c.61-70A>G	XP_011536724.1:n.61-70A>G
NM_000277.2:c.61-70A>G	NP_000268.1:n.61-70A>G
NM_001354304.1:c.61-70A>G	NP_001341233.1:n.61-70A>G
XM_017019370.2:c.61-70A>G	XP_016874859.1:n.61-70A>G
NM_000277.3:c.61-70A>G MANE Select	NP_000268.1:n.61-70A>G
NM_001354304.2:c.61-70A>G	NP_001341233.1:n.61-70A>G