Canonical Allele Identifier: CA572994

Gene: CA6

Linked Data

• dbSNP Id: rs761437024
• ExAC: 1:9017388 T / C
• gnomAD v2: 1-9017388-T-C
• gnomAD v3: 1-8957329-T-C
• gnomAD v4: 1-8957329-T-C
• MyVariant Identifiers: chr1:g.9017388T>C (hg19) ; chr1:g.8957329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957329T>C , CM000663.2:g.8957329T>C	GRCh38
NC_000001.10:g.9017388T>C , CM000663.1:g.9017388T>C	GRCh37
NC_000001.9:g.8939975T>C	NCBI36
NG_033975.1:g.16496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.408+44T>C MANE Select	ENSP00000366662.2:n.408+44T>C
ENST00000377436.6:c.408+44T>C	ENSP00000366654.3:n.408+44T>C
ENST00000377442.3:c.228+44T>C	ENSP00000366661.2:n.228+44T>C
ENST00000377443.6:c.408+44T>C	ENSP00000366662.2:n.408+44T>C
ENST00000476083.1:n.99-1581T>C
ENST00000549778.5:c.312+44T>C	ENSP00000447108.1:n.312+44T>C
NM_001215.3:c.408+44T>C	NP_001206.2:n.408+44T>C
NM_001270500.1:c.408+44T>C	NP_001257429.1:n.408+44T>C
NM_001270501.1:c.228+44T>C	NP_001257430.1:n.228+44T>C
NM_001270502.1:c.25-1581T>C	NP_001257431.1:n.25-1581T>C
XM_011542083.1:c.420+44T>C	XP_011540385.1:n.420+44T>C
XM_011542084.1:c.420+44T>C	XP_011540386.1:n.420+44T>C
XM_011542083.3:c.420+44T>C	XP_011540385.1:n.420+44T>C
XM_011542084.3:c.420+44T>C	XP_011540386.1:n.420+44T>C
NM_001215.4:c.408+44T>C MANE Select	NP_001206.2:n.408+44T>C
NM_001270500.2:c.408+44T>C	NP_001257429.1:n.408+44T>C
NM_001270501.2:c.228+44T>C	NP_001257430.1:n.228+44T>C
NM_001270502.2:c.25-1581T>C	NP_001257431.1:n.25-1581T>C