Canonical Allele Identifier: CA386493204

Gene: PAH

Linked Data

• COSMIC: COSM1605460
• MyVariant Identifiers: chr12:g.103237469A>T (hg19) ; chr12:g.102843691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843691A>T , CM000674.2:g.102843691A>T	GRCh38
NC_000012.11:g.103237469A>T , CM000674.1:g.103237469A>T	GRCh37
NC_000012.10:g.101761599A>T	NCBI36
NG_008690.1:g.78912T>A
NG_008690.2:g.119720T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1154T>A MANE Select	ENSP00000448059.1:p.Leu385His
ENST00000307000.7:c.1139T>A	ENSP00000303500.2:p.Leu380His
ENST00000549247.6:n.913T>A
ENST00000551114.2:n.816T>A
ENST00000553106.5:c.1154T>A	ENSP00000448059.1:p.Leu385His
ENST00000635477.1:c.258T>A
ENST00000635528.1:n.669T>A
NM_000277.1:c.1154T>A	NP_000268.1:p.Leu385Gln
XM_011538422.1:c.1097T>A	XP_011536724.1:p.Leu366His
NM_000277.2:c.1154T>A	NP_000268.1:p.Leu385His
NM_001354304.1:c.1154T>A	NP_001341233.1:p.Leu385His
NM_000277.3:c.1154T>A MANE Select	NP_000268.1:p.Leu385His
NM_001354304.2:c.1154T>A	NP_001341233.1:p.Leu385His