Canonical Allele Identifier: CA481332689

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103271285G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877507G>A , CM000674.2:g.102877507G>A	GRCh38
NC_000012.11:g.103271285G>A , CM000674.1:g.103271285G>A	GRCh37
NC_000012.10:g.101795415G>A	NCBI36
NG_008690.1:g.45096C>T
NG_008690.2:g.85904C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.396C>T MANE Select	ENSP00000448059.1:p.Ala132=
ENST00000307000.7:c.381C>T	ENSP00000303500.2:p.Ala127=
ENST00000549111.5:n.492C>T
ENST00000550978.6:c.380C>T
ENST00000551337.5:c.396C>T	ENSP00000447620.1:p.Ala132=
ENST00000551988.5:n.485C>T
ENST00000553106.5:c.396C>T	ENSP00000448059.1:p.Ala132=
NM_000277.1:c.396C>T	NP_000268.1:p.Ala132=
XM_011538422.1:c.396C>T	XP_011536724.1:p.Ala132=
NM_000277.2:c.396C>T	NP_000268.1:p.Ala132=
NM_001354304.1:c.396C>T	NP_001341233.1:p.Ala132=
XM_017019370.2:c.396C>T	XP_016874859.1:p.Ala132=
NM_000277.3:c.396C>T MANE Select	NP_000268.1:p.Ala132=
NM_001354304.2:c.396C>T	NP_001341233.1:p.Ala132=