Canonical Allele Identifier: CA386302073

Gene: PAH

Linked Data

• COSMIC: COSM6262889
• MyVariant Identifiers: chr12:g.103271250G>T (hg19) ; chr12:g.102877472G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877472G>T , CM000674.2:g.102877472G>T	GRCh38
NC_000012.11:g.103271250G>T , CM000674.1:g.103271250G>T	GRCh37
NC_000012.10:g.101795380G>T	NCBI36
NG_008690.1:g.45131C>A
NG_008690.2:g.85939C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.431C>A MANE Select	ENSP00000448059.1:p.Ala144Asp
ENST00000307000.7:c.416C>A	ENSP00000303500.2:p.Ala139Asp
ENST00000549111.5:n.527C>A
ENST00000550978.6:c.415C>A
ENST00000551988.5:n.520C>A
ENST00000553106.5:c.431C>A	ENSP00000448059.1:p.Ala144Asp
NM_000277.1:c.431C>A	NP_000268.1:p.Ala144Asp
XM_011538422.1:c.431C>A	XP_011536724.1:p.Ala144Asp
NM_000277.2:c.431C>A	NP_000268.1:p.Ala144Asp
NM_001354304.1:c.431C>A	NP_001341233.1:p.Ala144Asp
XM_017019370.2:c.431C>A	XP_016874859.1:p.Ala144Asp
NM_000277.3:c.431C>A MANE Select	NP_000268.1:p.Ala144Asp
NM_001354304.2:c.431C>A	NP_001341233.1:p.Ala144Asp