Canonical Allele Identifier: CA386302183

Gene: PAH

Linked Data

• COSMIC: COSM5970463
• MyVariant Identifiers: chr12:g.103271281G>C (hg19) ; chr12:g.102877503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877503G>C , CM000674.2:g.102877503G>C	GRCh38
NC_000012.11:g.103271281G>C , CM000674.1:g.103271281G>C	GRCh37
NC_000012.10:g.101795411G>C	NCBI36
NG_008690.1:g.45100C>G
NG_008690.2:g.85908C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.400C>G MANE Select	ENSP00000448059.1:p.Gln134Glu
ENST00000307000.7:c.385C>G	ENSP00000303500.2:p.Gln129Glu
ENST00000549111.5:n.496C>G
ENST00000550978.6:c.384C>G
ENST00000551337.5:c.400C>G	ENSP00000447620.1:p.Gln134Glu
ENST00000551988.5:n.489C>G
ENST00000553106.5:c.400C>G	ENSP00000448059.1:p.Gln134Glu
NM_000277.1:c.400C>G	NP_000268.1:p.Gln134Glu
XM_011538422.1:c.400C>G	XP_011536724.1:p.Gln134Glu
NM_000277.2:c.400C>G	NP_000268.1:p.Gln134Glu
NM_001354304.1:c.400C>G	NP_001341233.1:p.Gln134Glu
XM_017019370.2:c.400C>G	XP_016874859.1:p.Gln134Glu
NM_000277.3:c.400C>G MANE Select	NP_000268.1:p.Gln134Glu
NM_001354304.2:c.400C>G	NP_001341233.1:p.Gln134Glu