Canonical Allele Identifier: CA386291725

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103240719A>C (hg19) ; chr12:g.102846941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846941A>C , CM000674.2:g.102846941A>C	GRCh38
NC_000012.11:g.103240719A>C , CM000674.1:g.103240719A>C	GRCh37
NC_000012.10:g.101764849A>C	NCBI36
NG_008690.1:g.75662T>G
NG_008690.2:g.116470T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.923T>G MANE Select	ENSP00000448059.1:p.Leu308Arg
ENST00000307000.7:c.908T>G	ENSP00000303500.2:p.Leu303Arg
ENST00000549247.6:n.682T>G
ENST00000551114.2:n.585T>G
ENST00000553106.5:c.923T>G	ENSP00000448059.1:p.Leu308Arg
ENST00000635477.1:c.74-2510T>G
ENST00000635528.1:n.438T>G
NM_000277.1:c.923T>G	NP_000268.1:p.Leu308Arg
XM_011538422.1:c.913-2510T>G	XP_011536724.1:n.913-2510T>G
NM_000277.2:c.923T>G	NP_000268.1:p.Leu308Arg
NM_001354304.1:c.923T>G	NP_001341233.1:p.Leu308Arg
NM_000277.3:c.923T>G MANE Select	NP_000268.1:p.Leu308Arg
NM_001354304.2:c.923T>G	NP_001341233.1:p.Leu308Arg