Canonical Allele Identifier: CA982756030

Gene: UNC119

Linked Data

• dbSNP Id: rs2151509750
• gnomAD v3: 17-28552222-C-G
• gnomAD v4: 17-28552222-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552222C>G , CM000679.2:g.28552222C>G	GRCh38
NC_000017.10:g.26879240C>G , CM000679.1:g.26879240C>G	GRCh37
NC_000017.9:g.23903367C>G	NCBI36
NG_012302.1:g.5407G>C , LRG_341:g.5407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335765.9:c.220+116G>C MANE Select	ENSP00000337040.3:n.220+116G>C
ENST00000301032.8:c.220+116G>C	ENSP00000301032.4:n.220+116G>C
ENST00000335765.8:c.220+116G>C	ENSP00000337040.3:n.220+116G>C
ENST00000444148.1:c.220+116G>C	ENSP00000414639.1:n.220+116G>C
ENST00000481916.6:c.*1195+51829G>C	ENSP00000436369.2:n.*1195+51829G>C
ENST00000578434.1:n.288+116G>C
ENST00000581945.1:c.212+116G>C
NM_005148.3:c.220+116G>C , LRG_341t1:c.220+116G>C	NP_005139.1:n.220+116G>C
NM_054035.2:c.220+116G>C , LRG_341t2:c.220+116G>C	NP_473376.1:n.220+116G>C
XM_011525459.1:c.220+116G>C	XP_011523761.1:n.220+116G>C
NM_001330166.1:c.-94+116G>C	NP_001317095.1:n.-94+116G>C
XM_011525459.2:c.220+116G>C	XP_011523761.1:n.220+116G>C
NM_001330166.2:c.-94+116G>C	NP_001317095.1:n.-94+116G>C
NM_005148.4:c.220+116G>C MANE Select	NP_005139.1:n.220+116G>C