Canonical Allele Identifier: CA386302098

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103271256A>C (hg19) ; chr12:g.102877478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877478A>C , CM000674.2:g.102877478A>C	GRCh38
NC_000012.11:g.103271256A>C , CM000674.1:g.103271256A>C	GRCh37
NC_000012.10:g.101795386A>C	NCBI36
NG_008690.1:g.45125T>G
NG_008690.2:g.85933T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.425T>G MANE Select	ENSP00000448059.1:p.Leu142Arg
ENST00000307000.7:c.410T>G	ENSP00000303500.2:p.Leu137Arg
ENST00000549111.5:n.521T>G
ENST00000550978.6:c.409T>G
ENST00000551988.5:n.514T>G
ENST00000553106.5:c.425T>G	ENSP00000448059.1:p.Leu142Arg
NM_000277.1:c.425T>G	NP_000268.1:p.Leu142Arg
XM_011538422.1:c.425T>G	XP_011536724.1:p.Leu142Arg
NM_000277.2:c.425T>G	NP_000268.1:p.Leu142Arg
NM_001354304.1:c.425T>G	NP_001341233.1:p.Leu142Arg
XM_017019370.2:c.425T>G	XP_016874859.1:p.Leu142Arg
NM_000277.3:c.425T>G MANE Select	NP_000268.1:p.Leu142Arg
NM_001354304.2:c.425T>G	NP_001341233.1:p.Leu142Arg