Canonical Allele Identifier: CA2254361143

Gene: UNC119

Linked Data

• dbSNP Id: rs2070282665
• gnomAD v4: 17-28552308-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552308C>A , CM000679.2:g.28552308C>A	GRCh38
NC_000017.10:g.26879326C>A , CM000679.1:g.26879326C>A	GRCh37
NC_000017.9:g.23903453C>A	NCBI36
NG_012302.1:g.5321G>T , LRG_341:g.5321G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000335765.9:c.220+30G>T MANE Select	ENSP00000337040.3:n.220+30G>T
ENST00000301032.8:c.220+30G>T	ENSP00000301032.4:n.220+30G>T
ENST00000335765.8:c.220+30G>T	ENSP00000337040.3:n.220+30G>T
ENST00000444148.1:c.220+30G>T	ENSP00000414639.1:n.220+30G>T
ENST00000481916.6:c.*1195+51743G>T	ENSP00000436369.2:n.*1195+51743G>T
ENST00000578434.1:n.288+30G>T
ENST00000581945.1:c.212+30G>T
NM_005148.3:c.220+30G>T , LRG_341t1:c.220+30G>T	NP_005139.1:n.220+30G>T
NM_054035.2:c.220+30G>T , LRG_341t2:c.220+30G>T	NP_473376.1:n.220+30G>T
XM_011525459.1:c.220+30G>T	XP_011523761.1:n.220+30G>T
NM_001330166.1:c.-94+30G>T	NP_001317095.1:n.-94+30G>T
XM_011525459.2:c.220+30G>T	XP_011523761.1:n.220+30G>T
NM_001330166.2:c.-94+30G>T	NP_001317095.1:n.-94+30G>T
NM_005148.4:c.220+30G>T MANE Select	NP_005139.1:n.220+30G>T