Canonical Allele Identifier: CA386294480

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103245521C>G (hg19) ; chr12:g.102851743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851743C>G , CM000674.2:g.102851743C>G	GRCh38
NC_000012.11:g.103245521C>G , CM000674.1:g.103245521C>G	GRCh37
NC_000012.10:g.101769651C>G	NCBI36
NG_008690.1:g.70860G>C
NG_008690.2:g.111668G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.856G>C MANE Select	ENSP00000448059.1:p.Glu286Gln
ENST00000307000.7:c.841G>C	ENSP00000303500.2:p.Glu281Gln
ENST00000549247.6:n.615G>C
ENST00000551114.2:n.518G>C
ENST00000553106.5:c.856G>C	ENSP00000448059.1:p.Glu286Gln
ENST00000635477.1:c.17G>C
NM_000277.1:c.856G>C	NP_000268.1:p.Glu286Gln
XM_011538422.1:c.856G>C	XP_011536724.1:p.Glu286Gln
NM_000277.2:c.856G>C	NP_000268.1:p.Glu286Gln
NM_001354304.1:c.856G>C	NP_001341233.1:p.Glu286Gln
NM_000277.3:c.856G>C MANE Select	NP_000268.1:p.Glu286Gln
NM_001354304.2:c.856G>C	NP_001341233.1:p.Glu286Gln