Canonical Allele Identifier: CA572955

Gene: CA6

Linked Data

• dbSNP Id: rs757947900
• ExAC: 1:9017226 T / C
• gnomAD v2: 1-9017226-T-C
• gnomAD v3: 1-8957167-T-C
• gnomAD v4: 1-8957167-T-C
• MyVariant Identifiers: chr1:g.9017226T>C (hg19) ; chr1:g.8957167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957167T>C , CM000663.2:g.8957167T>C	GRCh38
NC_000001.10:g.9017226T>C , CM000663.1:g.9017226T>C	GRCh37
NC_000001.9:g.8939813T>C	NCBI36
NG_033975.1:g.16334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.290T>C MANE Select	ENSP00000366662.2:p.Met97Thr
ENST00000377436.6:c.290T>C	ENSP00000366654.3:p.Met97Thr
ENST00000377442.3:c.110T>C	ENSP00000366661.2:p.Met37Thr
ENST00000377443.6:c.290T>C	ENSP00000366662.2:p.Met97Thr
ENST00000476083.1:n.99-1743T>C
ENST00000549778.5:c.194T>C	ENSP00000447108.1:p.Met65Thr
NM_001215.3:c.290T>C	NP_001206.2:p.Met97Thr
NM_001270500.1:c.290T>C	NP_001257429.1:p.Met97Thr
NM_001270501.1:c.110T>C	NP_001257430.1:p.Met37Thr
NM_001270502.1:c.25-1743T>C	NP_001257431.1:n.25-1743T>C
XM_011542083.1:c.302T>C	XP_011540385.1:p.Met101Thr
XM_011542084.1:c.302T>C	XP_011540386.1:p.Met101Thr
XM_011542083.3:c.302T>C	XP_011540385.1:p.Met101Thr
XM_011542084.3:c.302T>C	XP_011540386.1:p.Met101Thr
NM_001215.4:c.290T>C MANE Select	NP_001206.2:p.Met97Thr
NM_001270500.2:c.290T>C	NP_001257429.1:p.Met97Thr
NM_001270501.2:c.110T>C	NP_001257430.1:p.Met37Thr
NM_001270502.2:c.25-1743T>C	NP_001257431.1:n.25-1743T>C