Canonical Allele Identifier: CA102346827

Gene: UNC5C

Linked Data

• dbSNP Id: rs989825875
• gnomAD v2: 4-96458571-G-A
• gnomAD v3: 4-95537420-G-A
• gnomAD v4: 4-95537420-G-A
• MyVariant Identifiers: chr4:g.96458571G>A (hg19) ; chr4:g.95537420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.95537420G>A , CM000666.2:g.95537420G>A	GRCh38
NC_000004.11:g.96458571G>A , CM000666.1:g.96458571G>A	GRCh37
NC_000004.10:g.96677594G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453304.6:c.124+11314C>T MANE Select	ENSP00000406022.1:n.124+11314C>T
ENST00000453304.5:c.124+11314C>T	ENSP00000406022.1:n.124+11314C>T
ENST00000504962.1:c.124+11314C>T	ENSP00000425117.1:n.124+11314C>T
ENST00000506749.5:c.124+11314C>T	ENSP00000426153.1:n.124+11314C>T
ENST00000513796.5:c.124+11314C>T	ENSP00000426924.1:n.124+11314C>T
NM_003728.3:c.124+11314C>T	NP_003719.3:n.124+11314C>T
XM_005263321.2:c.124+11314C>T	XP_005263378.1:n.124+11314C>T
XM_005263321.3:c.124+11314C>T	XP_005263378.1:n.124+11314C>T
NM_003728.4:c.124+11314C>T MANE Select	NP_003719.3:n.124+11314C>T