Canonical Allele Identifier: CA572949

Gene: CA6

Linked Data

• dbSNP Id: rs761202224
• ExAC: 1:9017220 T / C
• gnomAD v2: 1-9017220-T-C
• gnomAD v4: 1-8957161-T-C
• MyVariant Identifiers: chr1:g.9017220T>C (hg19) ; chr1:g.8957161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957161T>C , CM000663.2:g.8957161T>C	GRCh38
NC_000001.10:g.9017220T>C , CM000663.1:g.9017220T>C	GRCh37
NC_000001.9:g.8939807T>C	NCBI36
NG_033975.1:g.16328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.284T>C MANE Select	ENSP00000366662.2:p.Met95Thr
ENST00000377436.6:c.284T>C	ENSP00000366654.3:p.Met95Thr
ENST00000377442.3:c.104T>C	ENSP00000366661.2:p.Met35Thr
ENST00000377443.6:c.284T>C	ENSP00000366662.2:p.Met95Thr
ENST00000476083.1:n.99-1749T>C
ENST00000549778.5:c.188T>C	ENSP00000447108.1:p.Met63Thr
NM_001215.3:c.284T>C	NP_001206.2:p.Met95Thr
NM_001270500.1:c.284T>C	NP_001257429.1:p.Met95Thr
NM_001270501.1:c.104T>C	NP_001257430.1:p.Met35Thr
NM_001270502.1:c.25-1749T>C	NP_001257431.1:n.25-1749T>C
XM_011542083.1:c.296T>C	XP_011540385.1:p.Met99Thr
XM_011542084.1:c.296T>C	XP_011540386.1:p.Met99Thr
XM_011542083.3:c.296T>C	XP_011540385.1:p.Met99Thr
XM_011542084.3:c.296T>C	XP_011540386.1:p.Met99Thr
NM_001215.4:c.284T>C MANE Select	NP_001206.2:p.Met95Thr
NM_001270500.2:c.284T>C	NP_001257429.1:p.Met95Thr
NM_001270501.2:c.104T>C	NP_001257430.1:p.Met35Thr
NM_001270502.2:c.25-1749T>C	NP_001257431.1:n.25-1749T>C