Canonical Allele Identifier: CA800383698
Gene: UNC5C HGNC NCBI

Linked Data

dbSNP Id: rs1180952094
gnomAD v3: 4-95537134-C-A
gnomAD v4: 4-95537134-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95537134C>A , CM000666.2:g.95537134C>A GRCh38
NC_000004.11:g.96458285C>A , CM000666.1:g.96458285C>A GRCh37
NC_000004.10:g.96677308C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000453304.6:c.124+11600G>T MANE Select ENSP00000406022.1:n.124+11600G>T
ENST00000453304.5:c.124+11600G>T ENSP00000406022.1:n.124+11600G>T
ENST00000504962.1:c.124+11600G>T ENSP00000425117.1:n.124+11600G>T
ENST00000506749.5:c.124+11600G>T ENSP00000426153.1:n.124+11600G>T
ENST00000513796.5:c.124+11600G>T ENSP00000426924.1:n.124+11600G>T
NM_003728.3:c.124+11600G>T NP_003719.3:n.124+11600G>T
XM_005263321.2:c.124+11600G>T XP_005263378.1:n.124+11600G>T
XM_005263321.3:c.124+11600G>T XP_005263378.1:n.124+11600G>T
NM_003728.4:c.124+11600G>T MANE Select NP_003719.3:n.124+11600G>T