Canonical Allele Identifier: CA136880412
Gene: C6orf47 HGNC NCBI
BAG6 HGNC NCBI

Linked Data

dbSNP Id: rs75629491
gnomAD v2: 6-31626080-C-T
gnomAD v3: 6-31658303-C-T
gnomAD v4: 6-31658303-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658303C>T , CM000668.2:g.31658303C>T GRCh38
NC_000006.11:g.31626080C>T , CM000668.1:g.31626080C>T GRCh37
NC_000006.10:g.31734059C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375911.2:c.*760G>A (C6orf47) MANE Select ENSP00000365076.1:n.*760G>A
ENST00000375911.1:c.*760G>A (C6orf47) ENSP00000365076.1:n.*760G>A
NM_021184.3:c.*760G>A (C6orf47) NP_067007.3:n.*760G>A
XM_011514895.1:c.-14+2018G>A (BAG6) XP_011513197.1:n.-14+2018G>A
XM_017011279.2:c.-14+2018G>A (BAG6) XP_016866768.1:n.-14+2018G>A
NM_021184.4:c.*760G>A (C6orf47) MANE Select NP_067007.3:n.*760G>A