Canonical Allele Identifier: CA572953
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs533616544
gnomAD v2: 1-9017223-G-A
gnomAD v3: 1-8957164-G-A
gnomAD v4: 1-8957164-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957164G>A , CM000663.2:g.8957164G>A GRCh38
NC_000001.10:g.9017223G>A , CM000663.1:g.9017223G>A GRCh37
NC_000001.9:g.8939810G>A NCBI36
NG_033975.1:g.16331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.287G>A MANE Select ENSP00000366662.2:p.Arg96His
ENST00000377436.6:c.287G>A ENSP00000366654.3:p.Arg96His
ENST00000377442.3:c.107G>A ENSP00000366661.2:p.Arg36His
ENST00000377443.6:c.287G>A ENSP00000366662.2:p.Arg96His
ENST00000476083.1:n.99-1746G>A
ENST00000549778.5:c.191G>A ENSP00000447108.1:p.Arg64His
NM_001215.3:c.287G>A NP_001206.2:p.Arg96His
NM_001270500.1:c.287G>A NP_001257429.1:p.Arg96His
NM_001270501.1:c.107G>A NP_001257430.1:p.Arg36His
NM_001270502.1:c.25-1746G>A NP_001257431.1:n.25-1746G>A
XM_011542083.1:c.299G>A XP_011540385.1:p.Arg100His
XM_011542084.1:c.299G>A XP_011540386.1:p.Arg100His
XM_011542083.3:c.299G>A XP_011540385.1:p.Arg100His
XM_011542084.3:c.299G>A XP_011540386.1:p.Arg100His
NM_001215.4:c.287G>A MANE Select NP_001206.2:p.Arg96His
NM_001270500.2:c.287G>A NP_001257429.1:p.Arg96His
NM_001270501.2:c.107G>A NP_001257430.1:p.Arg36His
NM_001270502.2:c.25-1746G>A NP_001257431.1:n.25-1746G>A