Canonical Allele Identifier: CA338184697

Gene: CA6

Linked Data

• dbSNP Id: rs1248874081
• gnomAD v2: 1-9017232-T-A
• MyVariant Identifiers: chr1:g.9017232T>A (hg19) ; chr1:g.8957173T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8957173T>A , CM000663.2:g.8957173T>A	GRCh38
NC_000001.10:g.9017232T>A , CM000663.1:g.9017232T>A	GRCh37
NC_000001.9:g.8939819T>A	NCBI36
NG_033975.1:g.16340T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377443.7:c.296T>A MANE Select	ENSP00000366662.2:p.Val99Glu
ENST00000377436.6:c.296T>A	ENSP00000366654.3:p.Val99Glu
ENST00000377442.3:c.116T>A	ENSP00000366661.2:p.Val39Glu
ENST00000377443.6:c.296T>A	ENSP00000366662.2:p.Val99Glu
ENST00000476083.1:n.99-1737T>A
ENST00000549778.5:c.200T>A	ENSP00000447108.1:p.Val67Glu
NM_001215.3:c.296T>A	NP_001206.2:p.Val99Glu
NM_001270500.1:c.296T>A	NP_001257429.1:p.Val99Glu
NM_001270501.1:c.116T>A	NP_001257430.1:p.Val39Glu
NM_001270502.1:c.25-1737T>A	NP_001257431.1:n.25-1737T>A
XM_011542083.1:c.308T>A	XP_011540385.1:p.Val103Glu
XM_011542084.1:c.308T>A	XP_011540386.1:p.Val103Glu
XM_011542083.3:c.308T>A	XP_011540385.1:p.Val103Glu
XM_011542084.3:c.308T>A	XP_011540386.1:p.Val103Glu
NM_001215.4:c.296T>A MANE Select	NP_001206.2:p.Val99Glu
NM_001270500.2:c.296T>A	NP_001257429.1:p.Val99Glu
NM_001270501.2:c.116T>A	NP_001257430.1:p.Val39Glu
NM_001270502.2:c.25-1737T>A	NP_001257431.1:n.25-1737T>A