Canonical Allele Identifier: CA8459759

Gene: UNC119

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28547778T>C , CM000679.2:g.28547778T>C	GRCh38
NC_000017.10:g.26874796T>C , CM000679.1:g.26874796T>C	GRCh37
NC_000017.9:g.23898923T>C	NCBI36
NG_012302.1:g.9851A>G , LRG_341:g.9851A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005148.4:c.509A>G MANE Select	NP_005139.1:p.Gln170Arg
ENST00000335765.9:c.509A>G MANE Select	ENSP00000337040.3:p.Gln170Arg
NM_001330166.1:c.224A>G	NP_001317095.1:p.Gln75Arg
NM_001330166.2:c.224A>G	NP_001317095.1:p.Gln75Arg
NM_005148.3:c.509A>G , LRG_341t1:c.509A>G	NP_005139.1:p.Gln170Arg
NM_054035.2:c.509A>G , LRG_341t2:c.509A>G	NP_473376.1:p.Gln170Arg
ENST00000301032.8:c.509A>G	ENSP00000301032.4:p.Gln170Arg
ENST00000335765.8:c.509A>G	ENSP00000337040.3:p.Gln170Arg
ENST00000444148.1:c.488A>G	ENSP00000414639.1:p.Gln163Arg
ENST00000470125.5:c.224A>G	ENSP00000465323.1:p.Gln75Arg
ENST00000481916.6:c.*1195+56273A>G	ENSP00000436369.2:n.*1195+56273A>G
ENST00000484980.5:c.224A>G	ENSP00000466831.1:p.Gln75Arg
ENST00000487844.1:n.247A>G
ENST00000581945.1:c.284A>G
XM_011525459.1:c.*25A>G	XP_011523761.1:n.*25A>G
XM_011525459.2:c.*25A>G	XP_011523761.1:n.*25A>G