Canonical Allele Identifier: CA386294564

Gene: PAH

Linked Data

• COSMIC: COSM5373981
• MyVariant Identifiers: chr12:g.103246620C>T (hg19) ; chr12:g.102852842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852842C>T , CM000674.2:g.102852842C>T	GRCh38
NC_000012.11:g.103246620C>T , CM000674.1:g.103246620C>T	GRCh37
NC_000012.10:g.101770750C>T	NCBI36
NG_008690.1:g.69761G>A
NG_008690.2:g.110569G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.815G>A MANE Select	ENSP00000448059.1:p.Gly272Glu
ENST00000307000.7:c.800G>A	ENSP00000303500.2:p.Gly267Glu
ENST00000549247.6:n.574G>A
ENST00000553106.5:c.815G>A	ENSP00000448059.1:p.Gly272Glu
NM_000277.1:c.815G>A	NP_000268.1:p.Gly272Glu
XM_011538422.1:c.815G>A	XP_011536724.1:p.Gly272Glu
NM_000277.2:c.815G>A	NP_000268.1:p.Gly272Glu
NM_001354304.1:c.815G>A	NP_001341233.1:p.Gly272Glu
NM_000277.3:c.815G>A MANE Select	NP_000268.1:p.Gly272Glu
NM_001354304.2:c.815G>A	NP_001341233.1:p.Gly272Glu