Canonical Allele Identifier: CA727776254

Gene: UNC119

Linked Data

• dbSNP Id: rs1421746640
• gnomAD v4: 17-28552306-C-T
• MyVariant Identifiers: chr17:g.26879324C>T (hg19) ; chr17:g.28552306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28552306C>T , CM000679.2:g.28552306C>T	GRCh38
NC_000017.10:g.26879324C>T , CM000679.1:g.26879324C>T	GRCh37
NC_000017.9:g.23903451C>T	NCBI36
NG_012302.1:g.5323G>A , LRG_341:g.5323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000335765.9:c.220+32G>A MANE Select	ENSP00000337040.3:n.220+32G>A
ENST00000301032.8:c.220+32G>A	ENSP00000301032.4:n.220+32G>A
ENST00000335765.8:c.220+32G>A	ENSP00000337040.3:n.220+32G>A
ENST00000444148.1:c.220+32G>A	ENSP00000414639.1:n.220+32G>A
ENST00000481916.6:c.*1195+51745G>A	ENSP00000436369.2:n.*1195+51745G>A
ENST00000578434.1:n.288+32G>A
ENST00000581945.1:c.212+32G>A
NM_005148.3:c.220+32G>A , LRG_341t1:c.220+32G>A	NP_005139.1:n.220+32G>A
NM_054035.2:c.220+32G>A , LRG_341t2:c.220+32G>A	NP_473376.1:n.220+32G>A
XM_011525459.1:c.220+32G>A	XP_011523761.1:n.220+32G>A
NM_001330166.1:c.-94+32G>A	NP_001317095.1:n.-94+32G>A
XM_011525459.2:c.220+32G>A	XP_011523761.1:n.220+32G>A
NM_001330166.2:c.-94+32G>A	NP_001317095.1:n.-94+32G>A
NM_005148.4:c.220+32G>A MANE Select	NP_005139.1:n.220+32G>A