Canonical Allele Identifier: CA242469273

Gene: PAH

Linked Data

• dbSNP Id: rs17852374
• MyVariant Identifiers: chr12:g.103306629T>C (hg19) ; chr12:g.102912851T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912851T>C , CM000674.2:g.102912851T>C	GRCh38
NC_000012.11:g.103306629T>C , CM000674.1:g.103306629T>C	GRCh37
NC_000012.10:g.101830759T>C	NCBI36
NG_008690.1:g.9752A>G
NG_008690.2:g.50560A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.108A>G MANE Select	ENSP00000448059.1:p.Ser36=
ENST00000307000.7:c.93A>G	ENSP00000303500.2:p.Ser31=
ENST00000546844.1:c.108A>G	ENSP00000446658.1:p.Ser36=
ENST00000548677.2:n.195A>G
ENST00000548928.1:n.30A>G
ENST00000549111.5:n.204A>G
ENST00000550978.6:c.92A>G
ENST00000551337.5:c.108A>G	ENSP00000447620.1:p.Ser36=
ENST00000551988.5:n.197A>G
ENST00000553106.5:c.108A>G	ENSP00000448059.1:p.Ser36=
ENST00000635500.1:n.76A>G
NM_000277.1:c.108A>G	NP_000268.1:p.Ser36=
XM_011538422.1:c.108A>G	XP_011536724.1:p.Ser36=
NM_000277.2:c.108A>G	NP_000268.1:p.Ser36=
NM_001354304.1:c.108A>G	NP_001341233.1:p.Ser36=
XM_017019370.2:c.108A>G	XP_016874859.1:p.Ser36=
NM_000277.3:c.108A>G MANE Select	NP_000268.1:p.Ser36=
NM_001354304.2:c.108A>G	NP_001341233.1:p.Ser36=