Canonical Allele Identifier: CA338184707

Gene: CA6

Linked Data

• dbSNP Id: rs1226413321
• gnomAD v3: 1-8957178-G-A
• gnomAD v4: 1-8957178-G-A
• MyVariant Identifiers: chr1:g.9017237G>A (hg19) ; chr1:g.8957178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957178G>A , CM000663.2:g.8957178G>A	GRCh38
NC_000001.10:g.9017237G>A , CM000663.1:g.9017237G>A	GRCh37
NC_000001.9:g.8939824G>A	NCBI36
NG_033975.1:g.16345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.301G>A MANE Select	ENSP00000366662.2:p.Asp101Asn
ENST00000377436.6:c.301G>A	ENSP00000366654.3:p.Asp101Asn
ENST00000377442.3:c.121G>A	ENSP00000366661.2:p.Asp41Asn
ENST00000377443.6:c.301G>A	ENSP00000366662.2:p.Asp101Asn
ENST00000476083.1:n.99-1732G>A
ENST00000549778.5:c.205G>A	ENSP00000447108.1:p.Asp69Asn
NM_001215.3:c.301G>A	NP_001206.2:p.Asp101Asn
NM_001270500.1:c.301G>A	NP_001257429.1:p.Asp101Asn
NM_001270501.1:c.121G>A	NP_001257430.1:p.Asp41Asn
NM_001270502.1:c.25-1732G>A	NP_001257431.1:n.25-1732G>A
XM_011542083.1:c.313G>A	XP_011540385.1:p.Asp105Asn
XM_011542084.1:c.313G>A	XP_011540386.1:p.Asp105Asn
XM_011542083.3:c.313G>A	XP_011540385.1:p.Asp105Asn
XM_011542084.3:c.313G>A	XP_011540386.1:p.Asp105Asn
NM_001215.4:c.301G>A MANE Select	NP_001206.2:p.Asp101Asn
NM_001270500.2:c.301G>A	NP_001257429.1:p.Asp101Asn
NM_001270501.2:c.121G>A	NP_001257430.1:p.Asp41Asn
NM_001270502.2:c.25-1732G>A	NP_001257431.1:n.25-1732G>A