Canonical Allele Identifier: CA338184906

Gene: CA6

Linked Data

• dbSNP Id: rs1639713225
• gnomAD v3: 1-8957269-T-C
• gnomAD v4: 1-8957269-T-C
• MyVariant Identifiers: chr1:g.9017328T>C (hg19) ; chr1:g.8957269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957269T>C , CM000663.2:g.8957269T>C	GRCh38
NC_000001.10:g.9017328T>C , CM000663.1:g.9017328T>C	GRCh37
NC_000001.9:g.8939915T>C	NCBI36
NG_033975.1:g.16436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.392T>C MANE Select	ENSP00000366662.2:p.Ile131Thr
ENST00000377436.6:c.392T>C	ENSP00000366654.3:p.Ile131Thr
ENST00000377442.3:c.212T>C	ENSP00000366661.2:p.Ile71Thr
ENST00000377443.6:c.392T>C	ENSP00000366662.2:p.Ile131Thr
ENST00000476083.1:n.99-1641T>C
ENST00000549778.5:c.296T>C	ENSP00000447108.1:p.Ile99Thr
NM_001215.3:c.392T>C	NP_001206.2:p.Ile131Thr
NM_001270500.1:c.392T>C	NP_001257429.1:p.Ile131Thr
NM_001270501.1:c.212T>C	NP_001257430.1:p.Ile71Thr
NM_001270502.1:c.25-1641T>C	NP_001257431.1:n.25-1641T>C
XM_011542083.1:c.404T>C	XP_011540385.1:p.Ile135Thr
XM_011542084.1:c.404T>C	XP_011540386.1:p.Ile135Thr
XM_011542083.3:c.404T>C	XP_011540385.1:p.Ile135Thr
XM_011542084.3:c.404T>C	XP_011540386.1:p.Ile135Thr
NM_001215.4:c.392T>C MANE Select	NP_001206.2:p.Ile131Thr
NM_001270500.2:c.392T>C	NP_001257429.1:p.Ile131Thr
NM_001270501.2:c.212T>C	NP_001257430.1:p.Ile71Thr
NM_001270502.2:c.25-1641T>C	NP_001257431.1:n.25-1641T>C