Canonical Allele Identifier: CA481375397

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234284A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840506A>G , CM000674.2:g.102840506A>G	GRCh38
NC_000012.11:g.103234284A>G , CM000674.1:g.103234284A>G	GRCh37
NC_000012.10:g.101758414A>G	NCBI36
NG_008690.1:g.82097T>C
NG_008690.2:g.122905T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1209T>C MANE Select	ENSP00000448059.1:p.Ala403=
ENST00000307000.7:c.1194T>C	ENSP00000303500.2:p.Ala398=
ENST00000551114.2:n.871T>C
ENST00000553106.5:c.1209T>C	ENSP00000448059.1:p.Ala403=
ENST00000635477.1:c.313T>C
ENST00000635528.1:n.724T>C
NM_000277.1:c.1209T>C	NP_000268.1:p.Ala403=
XM_011538422.1:c.1152T>C	XP_011536724.1:p.Ala384=
NM_000277.2:c.1209T>C	NP_000268.1:p.Ala403=
NM_001354304.1:c.1209T>C	NP_001341233.1:p.Ala403=
NM_000277.3:c.1209T>C MANE Select	NP_000268.1:p.Ala403=
NM_001354304.2:c.1209T>C	NP_001341233.1:p.Ala403=