Canonical Allele Identifier: CA180229316

Gene: CA1

Linked Data

• dbSNP Id: rs774130288
• gnomAD v2: 8-86240735-A-G
• gnomAD v3: 8-85328506-A-G
• gnomAD v4: 8-85328506-A-G
• MyVariant Identifiers: chr8:g.86240735A>G (hg19) ; chr8:g.85328506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328506A>G , CM000670.2:g.85328506A>G	GRCh38
NC_000008.10:g.86240735A>G , CM000670.1:g.86240735A>G	GRCh37
NC_000008.9:g.86427987A>G	NCBI36
NG_016221.1:g.54608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.*54T>C MANE Select	ENSP00000429798.1:n.*54T>C
ENST00000431316.3:c.*54T>C	ENSP00000392338.1:n.*54T>C
ENST00000521679.5:c.589T>C
ENST00000522389.5:c.*54T>C	ENSP00000427773.1:n.*54T>C
ENST00000523022.5:c.*54T>C	ENSP00000429798.1:n.*54T>C
ENST00000523953.5:c.*54T>C	ENSP00000430656.1:n.*54T>C
ENST00000542576.5:c.*54T>C	ENSP00000443517.1:n.*54T>C
ENST00000626824.1:c.*54T>C	ENSP00000486171.1:n.*54T>C
NM_001128829.3:c.*54T>C	NP_001122301.1:n.*54T>C
NM_001128830.3:c.*54T>C	NP_001122302.1:n.*54T>C
NM_001128831.3:c.*54T>C	NP_001122303.1:n.*54T>C
NM_001164830.1:c.*54T>C	NP_001158302.1:n.*54T>C
NM_001291967.1:c.*54T>C	NP_001278896.1:n.*54T>C
NM_001291968.1:c.*54T>C	NP_001278897.1:n.*54T>C
NM_001738.4:c.*54T>C	NP_001729.1:n.*54T>C
XM_011517584.1:c.*54T>C	XP_011515886.1:n.*54T>C
NM_001128829.4:c.*54T>C	NP_001122301.1:n.*54T>C
NM_001128830.4:c.*54T>C	NP_001122302.1:n.*54T>C
NM_001128831.4:c.*54T>C MANE Select	NP_001122303.1:n.*54T>C
NM_001164830.2:c.*54T>C	NP_001158302.1:n.*54T>C
NM_001291967.2:c.*54T>C	NP_001278896.1:n.*54T>C
NM_001291968.2:c.*54T>C	NP_001278897.1:n.*54T>C
NM_001738.5:c.*54T>C	NP_001729.1:n.*54T>C