Canonical Allele Identifier: CA914989855
Gene: UNC5C HGNC NCBI

Linked Data

dbSNP Id: rs1560498418
gnomAD v2: 4-96458451-C-T
gnomAD v3: 4-95537300-C-T
gnomAD v4: 4-95537300-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.95537300C>T , CM000666.2:g.95537300C>T GRCh38
NC_000004.11:g.96458451C>T , CM000666.1:g.96458451C>T GRCh37
NC_000004.10:g.96677474C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000453304.6:c.124+11434G>A MANE Select ENSP00000406022.1:n.124+11434G>A
ENST00000453304.5:c.124+11434G>A ENSP00000406022.1:n.124+11434G>A
ENST00000504962.1:c.124+11434G>A ENSP00000425117.1:n.124+11434G>A
ENST00000506749.5:c.124+11434G>A ENSP00000426153.1:n.124+11434G>A
ENST00000513796.5:c.124+11434G>A ENSP00000426924.1:n.124+11434G>A
NM_003728.3:c.124+11434G>A NP_003719.3:n.124+11434G>A
XM_005263321.2:c.124+11434G>A XP_005263378.1:n.124+11434G>A
XM_005263321.3:c.124+11434G>A XP_005263378.1:n.124+11434G>A
NM_003728.4:c.124+11434G>A MANE Select NP_003719.3:n.124+11434G>A