Canonical Allele Identifier: CA338184866

Gene: CA6

Linked Data

• dbSNP Id: rs1225477886
• gnomAD v2: 1-9017309-G-C
• gnomAD v4: 1-8957250-G-C
• MyVariant Identifiers: chr1:g.9017309G>C (hg19) ; chr1:g.8957250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957250G>C , CM000663.2:g.8957250G>C	GRCh38
NC_000001.10:g.9017309G>C , CM000663.1:g.9017309G>C	GRCh37
NC_000001.9:g.8939896G>C	NCBI36
NG_033975.1:g.16417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.373G>C MANE Select	ENSP00000366662.2:p.Glu125Gln
ENST00000377436.6:c.373G>C	ENSP00000366654.3:p.Glu125Gln
ENST00000377442.3:c.193G>C	ENSP00000366661.2:p.Glu65Gln
ENST00000377443.6:c.373G>C	ENSP00000366662.2:p.Glu125Gln
ENST00000476083.1:n.99-1660G>C
ENST00000549778.5:c.277G>C	ENSP00000447108.1:p.Glu93Gln
NM_001215.3:c.373G>C	NP_001206.2:p.Glu125Gln
NM_001270500.1:c.373G>C	NP_001257429.1:p.Glu125Gln
NM_001270501.1:c.193G>C	NP_001257430.1:p.Glu65Gln
NM_001270502.1:c.25-1660G>C	NP_001257431.1:n.25-1660G>C
XM_011542083.1:c.385G>C	XP_011540385.1:p.Glu129Gln
XM_011542084.1:c.385G>C	XP_011540386.1:p.Glu129Gln
XM_011542083.3:c.385G>C	XP_011540385.1:p.Glu129Gln
XM_011542084.3:c.385G>C	XP_011540386.1:p.Glu129Gln
NM_001215.4:c.373G>C MANE Select	NP_001206.2:p.Glu125Gln
NM_001270500.2:c.373G>C	NP_001257429.1:p.Glu125Gln
NM_001270501.2:c.193G>C	NP_001257430.1:p.Glu65Gln
NM_001270502.2:c.25-1660G>C	NP_001257431.1:n.25-1660G>C