Canonical Allele Identifier: CA572958

Gene: CA6

Linked Data

• dbSNP Id: rs757161951
• ExAC: 1:9017238 A / G
• gnomAD v2: 1-9017238-A-G
• gnomAD v4: 1-8957179-A-G
• MyVariant Identifiers: chr1:g.9017238A>G (hg19) ; chr1:g.8957179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957179A>G , CM000663.2:g.8957179A>G	GRCh38
NC_000001.10:g.9017238A>G , CM000663.1:g.9017238A>G	GRCh37
NC_000001.9:g.8939825A>G	NCBI36
NG_033975.1:g.16346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.302A>G MANE Select	ENSP00000366662.2:p.Asp101Gly
ENST00000377436.6:c.302A>G	ENSP00000366654.3:p.Asp101Gly
ENST00000377442.3:c.122A>G	ENSP00000366661.2:p.Asp41Gly
ENST00000377443.6:c.302A>G	ENSP00000366662.2:p.Asp101Gly
ENST00000476083.1:n.99-1731A>G
ENST00000549778.5:c.206A>G	ENSP00000447108.1:p.Asp69Gly
NM_001215.3:c.302A>G	NP_001206.2:p.Asp101Gly
NM_001270500.1:c.302A>G	NP_001257429.1:p.Asp101Gly
NM_001270501.1:c.122A>G	NP_001257430.1:p.Asp41Gly
NM_001270502.1:c.25-1731A>G	NP_001257431.1:n.25-1731A>G
XM_011542083.1:c.314A>G	XP_011540385.1:p.Asp105Gly
XM_011542084.1:c.314A>G	XP_011540386.1:p.Asp105Gly
XM_011542083.3:c.314A>G	XP_011540385.1:p.Asp105Gly
XM_011542084.3:c.314A>G	XP_011540386.1:p.Asp105Gly
NM_001215.4:c.302A>G MANE Select	NP_001206.2:p.Asp101Gly
NM_001270500.2:c.302A>G	NP_001257429.1:p.Asp101Gly
NM_001270501.2:c.122A>G	NP_001257430.1:p.Asp41Gly
NM_001270502.2:c.25-1731A>G	NP_001257431.1:n.25-1731A>G