Canonical Allele Identifier: CA371418485

Gene: CA1

Linked Data

• gnomAD v4: 8-85328586-C-A
• MyVariant Identifiers: chr8:g.86240815C>A (hg19) ; chr8:g.85328586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328586C>A , CM000670.2:g.85328586C>A	GRCh38
NC_000008.10:g.86240815C>A , CM000670.1:g.86240815C>A	GRCh37
NC_000008.9:g.86428067C>A	NCBI36
NG_016221.1:g.54528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.760G>T MANE Select	ENSP00000429798.1:p.Gly254Cys
ENST00000431316.3:c.760G>T	ENSP00000392338.1:p.Gly254Cys
ENST00000521679.5:c.509G>T
ENST00000522389.5:c.358G>T	ENSP00000427773.1:p.Gly120Cys
ENST00000523022.5:c.760G>T	ENSP00000429798.1:p.Gly254Cys
ENST00000523953.5:c.760G>T	ENSP00000430656.1:p.Gly254Cys
ENST00000524324.5:c.562G>T	ENSP00000428923.1:p.Gly188Cys
ENST00000542576.5:c.760G>T	ENSP00000443517.1:p.Gly254Cys
ENST00000626824.1:c.358G>T	ENSP00000486171.1:p.Gly120Cys
NM_001128829.3:c.760G>T	NP_001122301.1:p.Gly254Cys
NM_001128830.3:c.760G>T	NP_001122302.1:p.Gly254Cys
NM_001128831.3:c.760G>T	NP_001122303.1:p.Gly254Cys
NM_001164830.1:c.760G>T	NP_001158302.1:p.Gly254Cys
NM_001291967.1:c.562G>T	NP_001278896.1:p.Gly188Cys
NM_001291968.1:c.421G>T	NP_001278897.1:p.Gly141Cys
NM_001738.4:c.760G>T	NP_001729.1:p.Gly254Cys
XM_011517584.1:c.760G>T	XP_011515886.1:p.Gly254Cys
NM_001128829.4:c.760G>T	NP_001122301.1:p.Gly254Cys
NM_001128830.4:c.760G>T	NP_001122302.1:p.Gly254Cys
NM_001128831.4:c.760G>T MANE Select	NP_001122303.1:p.Gly254Cys
NM_001164830.2:c.760G>T	NP_001158302.1:p.Gly254Cys
NM_001291967.2:c.562G>T	NP_001278896.1:p.Gly188Cys
NM_001291968.2:c.421G>T	NP_001278897.1:p.Gly141Cys
NM_001738.5:c.760G>T	NP_001729.1:p.Gly254Cys