Canonical Allele Identifier: CA338184713

Gene: CA6

Linked Data

• dbSNP Id: rs199675048
• gnomAD v2: 1-9017239-C-G
• gnomAD v4: 1-8957180-C-G
• MyVariant Identifiers: chr1:g.9017239C>G (hg19) ; chr1:g.8957180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957180C>G , CM000663.2:g.8957180C>G	GRCh38
NC_000001.10:g.9017239C>G , CM000663.1:g.9017239C>G	GRCh37
NC_000001.9:g.8939826C>G	NCBI36
NG_033975.1:g.16347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.303C>G MANE Select	ENSP00000366662.2:p.Asp101Glu
ENST00000377436.6:c.303C>G	ENSP00000366654.3:p.Asp101Glu
ENST00000377442.3:c.123C>G	ENSP00000366661.2:p.Asp41Glu
ENST00000377443.6:c.303C>G	ENSP00000366662.2:p.Asp101Glu
ENST00000476083.1:n.99-1730C>G
ENST00000549778.5:c.207C>G	ENSP00000447108.1:p.Asp69Glu
NM_001215.3:c.303C>G	NP_001206.2:p.Asp101Glu
NM_001270500.1:c.303C>G	NP_001257429.1:p.Asp101Glu
NM_001270501.1:c.123C>G	NP_001257430.1:p.Asp41Glu
NM_001270502.1:c.25-1730C>G	NP_001257431.1:n.25-1730C>G
XM_011542083.1:c.315C>G	XP_011540385.1:p.Asp105Glu
XM_011542084.1:c.315C>G	XP_011540386.1:p.Asp105Glu
XM_011542083.3:c.315C>G	XP_011540385.1:p.Asp105Glu
XM_011542084.3:c.315C>G	XP_011540386.1:p.Asp105Glu
NM_001215.4:c.303C>G MANE Select	NP_001206.2:p.Asp101Glu
NM_001270500.2:c.303C>G	NP_001257429.1:p.Asp101Glu
NM_001270501.2:c.123C>G	NP_001257430.1:p.Asp41Glu
NM_001270502.2:c.25-1730C>G	NP_001257431.1:n.25-1730C>G