Canonical Allele Identifier: CA727776202

Gene: UNC119

Linked Data

• dbSNP Id: rs1343770119
• gnomAD v4: 17-28552225-T-C
• MyVariant Identifiers: chr17:g.26879243T>C (hg19) ; chr17:g.28552225T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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