Canonical Allele Identifier: CA572963

Gene: CA6

Linked Data

• ClinVar Variation Id: 2305302
• ClinVar RCV Id: RCV004151123
• dbSNP Id: rs779324859
• ExAC: 1:9017265 T / A
• gnomAD v2: 1-9017265-T-A
• gnomAD v4: 1-8957206-T-A
• MyVariant Identifiers: chr1:g.9017265T>A (hg19) ; chr1:g.8957206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957206T>A , CM000663.2:g.8957206T>A	GRCh38
NC_000001.10:g.9017265T>A , CM000663.1:g.9017265T>A	GRCh37
NC_000001.9:g.8939852T>A	NCBI36
NG_033975.1:g.16373T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.329T>A MANE Select	ENSP00000366662.2:p.Met110Lys
ENST00000377436.6:c.329T>A	ENSP00000366654.3:p.Met110Lys
ENST00000377442.3:c.149T>A	ENSP00000366661.2:p.Met50Lys
ENST00000377443.6:c.329T>A	ENSP00000366662.2:p.Met110Lys
ENST00000476083.1:n.99-1704T>A
ENST00000549778.5:c.233T>A	ENSP00000447108.1:p.Met78Lys
NM_001215.3:c.329T>A	NP_001206.2:p.Met110Lys
NM_001270500.1:c.329T>A	NP_001257429.1:p.Met110Lys
NM_001270501.1:c.149T>A	NP_001257430.1:p.Met50Lys
NM_001270502.1:c.25-1704T>A	NP_001257431.1:n.25-1704T>A
XM_011542083.1:c.341T>A	XP_011540385.1:p.Met114Lys
XM_011542084.1:c.341T>A	XP_011540386.1:p.Met114Lys
XM_011542083.3:c.341T>A	XP_011540385.1:p.Met114Lys
XM_011542084.3:c.341T>A	XP_011540386.1:p.Met114Lys
NM_001215.4:c.329T>A MANE Select	NP_001206.2:p.Met110Lys
NM_001270500.2:c.329T>A	NP_001257429.1:p.Met110Lys
NM_001270501.2:c.149T>A	NP_001257430.1:p.Met50Lys
NM_001270502.2:c.25-1704T>A	NP_001257431.1:n.25-1704T>A