Canonical Allele Identifier: CA119466330
Gene: C5orf67 HGNC NCBI

Linked Data

dbSNP Id: rs1054509775
gnomAD v3: 5-56572335-G-A
gnomAD v4: 5-56572335-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56572335G>A , CM000667.2:g.56572335G>A GRCh38
NC_000005.9:g.55868162G>A , CM000667.1:g.55868162G>A GRCh37
NC_000005.8:g.55903919G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438651.5:c.-15-16148C>T ENSP00000406718.1:n.-15-16148C>T
NM_001287053.1:c.-15-16148C>T NP_001273982.1:n.-15-16148C>T
XM_017008942.1:c.-628-455C>T XP_016864431.1:n.-628-455C>T
NR_161255.1:n.236-16148C>T