Canonical Allele Identifier: CA1065643487
Gene: UNC5C HGNC NCBI

Linked Data

dbSNP Id: rs1722809781
gnomAD v3: 4-95537444-C-G
gnomAD v4: 4-95537444-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95537444C>G , CM000666.2:g.95537444C>G GRCh38
NC_000004.11:g.96458595C>G , CM000666.1:g.96458595C>G GRCh37
NC_000004.10:g.96677618C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000453304.6:c.124+11290G>C MANE Select ENSP00000406022.1:n.124+11290G>C
ENST00000453304.5:c.124+11290G>C ENSP00000406022.1:n.124+11290G>C
ENST00000504962.1:c.124+11290G>C ENSP00000425117.1:n.124+11290G>C
ENST00000506749.5:c.124+11290G>C ENSP00000426153.1:n.124+11290G>C
ENST00000513796.5:c.124+11290G>C ENSP00000426924.1:n.124+11290G>C
NM_003728.3:c.124+11290G>C NP_003719.3:n.124+11290G>C
XM_005263321.2:c.124+11290G>C XP_005263378.1:n.124+11290G>C
XM_005263321.3:c.124+11290G>C XP_005263378.1:n.124+11290G>C
NM_003728.4:c.124+11290G>C MANE Select NP_003719.3:n.124+11290G>C