Canonical Allele Identifier: CA229679

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855177T>C , CM000674.2:g.102855177T>C	GRCh38
NC_000012.11:g.103248955T>C , CM000674.1:g.103248955T>C	GRCh37
NC_000012.10:g.101773085T>C	NCBI36
NG_008690.1:g.67426A>G
NG_008690.2:g.108234A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.665A>G MANE Select	NP_000268.1:p.Asp222Gly
ENST00000553106.6:c.665A>G MANE Select	ENSP00000448059.1:p.Asp222Gly
NM_000277.1:c.665A>G	NP_000268.1:p.Asp222Gly
NM_000277.2:c.665A>G	NP_000268.1:p.Asp222Gly
NM_001354304.1:c.665A>G	NP_001341233.1:p.Asp222Gly
NM_001354304.2:c.665A>G	NP_001341233.1:p.Asp222Gly
ENST00000307000.7:c.650A>G	ENSP00000303500.2:p.Asp217Gly
ENST00000549111.5:n.761A>G
ENST00000553106.5:c.665A>G	ENSP00000448059.1:p.Asp222Gly
XM_011538422.1:c.665A>G	XP_011536724.1:p.Asp222Gly
XM_017019370.2:c.665A>G	XP_016874859.1:p.Asp222Gly