Canonical Allele Identifier: CA338184797

Gene: CA6

Linked Data

• dbSNP Id: rs1639710852
• gnomAD v4: 1-8957217-T-C
• MyVariant Identifiers: chr1:g.9017276T>C (hg19) ; chr1:g.8957217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957217T>C , CM000663.2:g.8957217T>C	GRCh38
NC_000001.10:g.9017276T>C , CM000663.1:g.9017276T>C	GRCh37
NC_000001.9:g.8939863T>C	NCBI36
NG_033975.1:g.16384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.340T>C MANE Select	ENSP00000366662.2:p.Trp114Arg
ENST00000377436.6:c.340T>C	ENSP00000366654.3:p.Trp114Arg
ENST00000377442.3:c.160T>C	ENSP00000366661.2:p.Trp54Arg
ENST00000377443.6:c.340T>C	ENSP00000366662.2:p.Trp114Arg
ENST00000476083.1:n.99-1693T>C
ENST00000549778.5:c.244T>C	ENSP00000447108.1:p.Trp82Arg
NM_001215.3:c.340T>C	NP_001206.2:p.Trp114Arg
NM_001270500.1:c.340T>C	NP_001257429.1:p.Trp114Arg
NM_001270501.1:c.160T>C	NP_001257430.1:p.Trp54Arg
NM_001270502.1:c.25-1693T>C	NP_001257431.1:n.25-1693T>C
XM_011542083.1:c.352T>C	XP_011540385.1:p.Trp118Arg
XM_011542084.1:c.352T>C	XP_011540386.1:p.Trp118Arg
XM_011542083.3:c.352T>C	XP_011540385.1:p.Trp118Arg
XM_011542084.3:c.352T>C	XP_011540386.1:p.Trp118Arg
NM_001215.4:c.340T>C MANE Select	NP_001206.2:p.Trp114Arg
NM_001270500.2:c.340T>C	NP_001257429.1:p.Trp114Arg
NM_001270501.2:c.160T>C	NP_001257430.1:p.Trp54Arg
NM_001270502.2:c.25-1693T>C	NP_001257431.1:n.25-1693T>C