Canonical Allele Identifier: CA119464625
Gene: C5orf67 HGNC NCBI

Linked Data

dbSNP Id: rs560752141
gnomAD v2: 5-55859884-G-A
gnomAD v3: 5-56564057-G-A
gnomAD v4: 5-56564057-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56564057G>A , CM000667.2:g.56564057G>A GRCh38
NC_000005.9:g.55859884G>A , CM000667.1:g.55859884G>A GRCh37
NC_000005.8:g.55895641G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438651.5:c.-15-7870C>T ENSP00000406718.1:n.-15-7870C>T
NM_001287053.1:c.-15-7870C>T NP_001273982.1:n.-15-7870C>T
XM_017008942.1:c.-16+6321C>T XP_016864431.1:n.-16+6321C>T
NR_161255.1:n.236-7870C>T