Canonical Allele Identifier: CA136880417
Gene: C6orf47 HGNC NCBI
BAG6 HGNC NCBI

Linked Data

dbSNP Id: rs142936219
gnomAD v2: 6-31626113-C-T
gnomAD v3: 6-31658336-C-T
gnomAD v4: 6-31658336-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658336C>T , CM000668.2:g.31658336C>T GRCh38
NC_000006.11:g.31626113C>T , CM000668.1:g.31626113C>T GRCh37
NC_000006.10:g.31734092C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375911.2:c.*727G>A (C6orf47) MANE Select ENSP00000365076.1:n.*727G>A
ENST00000375911.1:c.*727G>A (C6orf47) ENSP00000365076.1:n.*727G>A
NM_021184.3:c.*727G>A (C6orf47) NP_067007.3:n.*727G>A
XM_011514895.1:c.-14+1985G>A (BAG6) XP_011513197.1:n.-14+1985G>A
XM_017011279.2:c.-14+1985G>A (BAG6) XP_016866768.1:n.-14+1985G>A
NM_021184.4:c.*727G>A (C6orf47) MANE Select NP_067007.3:n.*727G>A