Canonical Allele Identifier: CA386493217

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237475T>C (hg19) ; chr12:g.102843697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843697T>C , CM000674.2:g.102843697T>C	GRCh38
NC_000012.11:g.103237475T>C , CM000674.1:g.103237475T>C	GRCh37
NC_000012.10:g.101761605T>C	NCBI36
NG_008690.1:g.78906A>G
NG_008690.2:g.119714A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1148A>G MANE Select	ENSP00000448059.1:p.Gln383Arg
ENST00000307000.7:c.1133A>G	ENSP00000303500.2:p.Gln378Arg
ENST00000549247.6:n.907A>G
ENST00000551114.2:n.810A>G
ENST00000553106.5:c.1148A>G	ENSP00000448059.1:p.Gln383Arg
ENST00000635477.1:c.252A>G
ENST00000635528.1:n.663A>G
NM_000277.1:c.1148A>G	NP_000268.1:p.Gln383Arg
XM_011538422.1:c.1091A>G	XP_011536724.1:p.Gln364Arg
NM_000277.2:c.1148A>G	NP_000268.1:p.Gln383Arg
NM_001354304.1:c.1148A>G	NP_001341233.1:p.Gln383Arg
NM_000277.3:c.1148A>G MANE Select	NP_000268.1:p.Gln383Arg
NM_001354304.2:c.1148A>G	NP_001341233.1:p.Gln383Arg