Canonical Allele Identifier: CA229360

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237468G>G (hg19) ; chr12:g.102843690G>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843690G= , CM000674.2:g.102843690G=	GRCh38
NC_000012.11:g.103237468G= , CM000674.1:g.103237468G=	GRCh37
NC_000012.10:g.101761598G=	NCBI36
NG_008690.2:g.119721C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1155C= MANE Select	ENSP00000448059.1:p.Leu385=
ENST00000307000.7:c.1140C=	ENSP00000303500.2:p.Leu380=
ENST00000549247.6:n.914C=
ENST00000551114.2:n.817C=
ENST00000553106.5:c.1155C=	ENSP00000448059.1:p.Leu385=
ENST00000635477.1:c.259C=
ENST00000635528.1:n.670C=
XM_011538422.1:c.1098C=	XP_011536724.1:p.Leu366=
NM_000277.2:c.1155C=	NP_000268.1:p.Leu385=
NM_001354304.1:c.1155C=	NP_001341233.1:p.Leu385=
NM_000277.3:c.1155C= MANE Select	NP_000268.1:p.Leu385=
NM_001354304.2:c.1155C=	NP_001341233.1:p.Leu385=