Canonical Allele Identifier: CA2687785989
Gene: CA1 HGNC NCBI

Linked Data

gnomAD v4: 8-85328523-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85328523G>A , CM000670.2:g.85328523G>A GRCh38
NC_000008.10:g.86240752G>A , CM000670.1:g.86240752G>A GRCh37
NC_000008.9:g.86428004G>A NCBI36
NG_016221.1:g.54591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000523022.6:c.*37C>T MANE Select ENSP00000429798.1:n.*37C>T
ENST00000431316.3:c.*37C>T ENSP00000392338.1:n.*37C>T
ENST00000521679.5:c.572C>T
ENST00000522389.5:c.*37C>T ENSP00000427773.1:n.*37C>T
ENST00000523022.5:c.*37C>T ENSP00000429798.1:n.*37C>T
ENST00000523953.5:c.*37C>T ENSP00000430656.1:n.*37C>T
ENST00000542576.5:c.*37C>T ENSP00000443517.1:n.*37C>T
ENST00000626824.1:c.*37C>T ENSP00000486171.1:n.*37C>T
NM_001128829.3:c.*37C>T NP_001122301.1:n.*37C>T
NM_001128830.3:c.*37C>T NP_001122302.1:n.*37C>T
NM_001128831.3:c.*37C>T NP_001122303.1:n.*37C>T
NM_001164830.1:c.*37C>T NP_001158302.1:n.*37C>T
NM_001291967.1:c.*37C>T NP_001278896.1:n.*37C>T
NM_001291968.1:c.*37C>T NP_001278897.1:n.*37C>T
NM_001738.4:c.*37C>T NP_001729.1:n.*37C>T
XM_011517584.1:c.*37C>T XP_011515886.1:n.*37C>T
NM_001128829.4:c.*37C>T NP_001122301.1:n.*37C>T
NM_001128830.4:c.*37C>T NP_001122302.1:n.*37C>T
NM_001128831.4:c.*37C>T MANE Select NP_001122303.1:n.*37C>T
NM_001164830.2:c.*37C>T NP_001158302.1:n.*37C>T
NM_001291967.2:c.*37C>T NP_001278896.1:n.*37C>T
NM_001291968.2:c.*37C>T NP_001278897.1:n.*37C>T
NM_001738.5:c.*37C>T NP_001729.1:n.*37C>T