Canonical Allele Identifier: CA2677984627
Gene: C6orf47 HGNC NCBI
BAG6 HGNC NCBI

Linked Data

gnomAD v4: 6-31658315-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658315G>A , CM000668.2:g.31658315G>A GRCh38
NC_000006.11:g.31626092G>A , CM000668.1:g.31626092G>A GRCh37
NC_000006.10:g.31734071G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375911.2:c.*748C>T (C6orf47) MANE Select ENSP00000365076.1:n.*748C>T
ENST00000375911.1:c.*748C>T (C6orf47) ENSP00000365076.1:n.*748C>T
NM_021184.3:c.*748C>T (C6orf47) NP_067007.3:n.*748C>T
XM_011514895.1:c.-14+2006C>T (BAG6) XP_011513197.1:n.-14+2006C>T
XM_017011279.2:c.-14+2006C>T (BAG6) XP_016866768.1:n.-14+2006C>T
NM_021184.4:c.*748C>T (C6orf47) MANE Select NP_067007.3:n.*748C>T