Canonical Allele Identifier: CA572950

Gene: CA6

Linked Data

• dbSNP Id: rs766673152
• ExAC: 1:9017222 C / T
• gnomAD v2: 1-9017222-C-T
• gnomAD v3: 1-8957163-C-T
• gnomAD v4: 1-8957163-C-T
• MyVariant Identifiers: chr1:g.9017222C>T (hg19) ; chr1:g.8957163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957163C>T , CM000663.2:g.8957163C>T	GRCh38
NC_000001.10:g.9017222C>T , CM000663.1:g.9017222C>T	GRCh37
NC_000001.9:g.8939809C>T	NCBI36
NG_033975.1:g.16330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.286C>T MANE Select	ENSP00000366662.2:p.Arg96Cys
ENST00000377436.6:c.286C>T	ENSP00000366654.3:p.Arg96Cys
ENST00000377442.3:c.106C>T	ENSP00000366661.2:p.Arg36Cys
ENST00000377443.6:c.286C>T	ENSP00000366662.2:p.Arg96Cys
ENST00000476083.1:n.99-1747C>T
ENST00000549778.5:c.190C>T	ENSP00000447108.1:p.Arg64Cys
NM_001215.3:c.286C>T	NP_001206.2:p.Arg96Cys
NM_001270500.1:c.286C>T	NP_001257429.1:p.Arg96Cys
NM_001270501.1:c.106C>T	NP_001257430.1:p.Arg36Cys
NM_001270502.1:c.25-1747C>T	NP_001257431.1:n.25-1747C>T
XM_011542083.1:c.298C>T	XP_011540385.1:p.Arg100Cys
XM_011542084.1:c.298C>T	XP_011540386.1:p.Arg100Cys
XM_011542083.3:c.298C>T	XP_011540385.1:p.Arg100Cys
XM_011542084.3:c.298C>T	XP_011540386.1:p.Arg100Cys
NM_001215.4:c.286C>T MANE Select	NP_001206.2:p.Arg96Cys
NM_001270500.2:c.286C>T	NP_001257429.1:p.Arg96Cys
NM_001270501.2:c.106C>T	NP_001257430.1:p.Arg36Cys
NM_001270502.2:c.25-1747C>T	NP_001257431.1:n.25-1747C>T