Canonical Allele Identifier: CA2254361020

Gene: UNC119

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552225T= , CM000679.2:g.28552225T=	GRCh38
NC_000017.10:g.26879243T= , CM000679.1:g.26879243T=	GRCh37
NC_000017.9:g.23903370T=	NCBI36
NG_012302.1:g.5404A= , LRG_341:g.5404A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335765.9:c.220+113A= MANE Select	ENSP00000337040.3:n.220+113A=
ENST00000301032.8:c.220+113A=	ENSP00000301032.4:n.220+113A=
ENST00000335765.8:c.220+113A=	ENSP00000337040.3:n.220+113A=
ENST00000444148.1:c.220+113A=	ENSP00000414639.1:n.220+113A=
ENST00000481916.6:c.*1195+51826A=	ENSP00000436369.2:n.*1195+51826A=
ENST00000578434.1:n.288+113A=
ENST00000581945.1:c.212+113A=
NM_005148.3:c.220+113A= , LRG_341t1:c.220+113A=	NP_005139.1:n.220+113A=
NM_054035.2:c.220+113A= , LRG_341t2:c.220+113A=	NP_473376.1:n.220+113A=
XM_011525459.1:c.220+113A=	XP_011523761.1:n.220+113A=
NM_001330166.1:c.-94+113A=	NP_001317095.1:n.-94+113A=
XM_011525459.2:c.220+113A=	XP_011523761.1:n.220+113A=
NM_001330166.2:c.-94+113A=	NP_001317095.1:n.-94+113A=
NM_005148.4:c.220+113A= MANE Select	NP_005139.1:n.220+113A=