Canonical Allele Identifier: CA553475569
Gene: UNC5C HGNC NCBI

Linked Data

dbSNP Id: rs1401932140
gnomAD v2: 4-96458272-T-G
gnomAD v3: 4-95537121-T-G
gnomAD v4: 4-95537121-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95537121T>G , CM000666.2:g.95537121T>G GRCh38
NC_000004.11:g.96458272T>G , CM000666.1:g.96458272T>G GRCh37
NC_000004.10:g.96677295T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000453304.6:c.124+11613A>C MANE Select ENSP00000406022.1:n.124+11613A>C
ENST00000453304.5:c.124+11613A>C ENSP00000406022.1:n.124+11613A>C
ENST00000504962.1:c.124+11613A>C ENSP00000425117.1:n.124+11613A>C
ENST00000506749.5:c.124+11613A>C ENSP00000426153.1:n.124+11613A>C
ENST00000513796.5:c.124+11613A>C ENSP00000426924.1:n.124+11613A>C
NM_003728.3:c.124+11613A>C NP_003719.3:n.124+11613A>C
XM_005263321.2:c.124+11613A>C XP_005263378.1:n.124+11613A>C
XM_005263321.3:c.124+11613A>C XP_005263378.1:n.124+11613A>C
NM_003728.4:c.124+11613A>C MANE Select NP_003719.3:n.124+11613A>C