Canonical Allele Identifier: CA481333643

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103306629T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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