Canonical Allele Identifier: CA2687785978
Gene: CA1 HGNC NCBI

Linked Data

gnomAD v4: 8-85328501-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85328501G>T , CM000670.2:g.85328501G>T GRCh38
NC_000008.10:g.86240730G>T , CM000670.1:g.86240730G>T GRCh37
NC_000008.9:g.86427982G>T NCBI36
NG_016221.1:g.54613C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000523022.6:c.*59C>A MANE Select ENSP00000429798.1:n.*59C>A
ENST00000431316.3:c.*59C>A ENSP00000392338.1:n.*59C>A
ENST00000521679.5:c.594C>A
ENST00000522389.5:c.*59C>A ENSP00000427773.1:n.*59C>A
ENST00000523022.5:c.*59C>A ENSP00000429798.1:n.*59C>A
ENST00000523953.5:c.*59C>A ENSP00000430656.1:n.*59C>A
ENST00000542576.5:c.*59C>A ENSP00000443517.1:n.*59C>A
ENST00000626824.1:c.*59C>A ENSP00000486171.1:n.*59C>A
NM_001128829.3:c.*59C>A NP_001122301.1:n.*59C>A
NM_001128830.3:c.*59C>A NP_001122302.1:n.*59C>A
NM_001128831.3:c.*59C>A NP_001122303.1:n.*59C>A
NM_001164830.1:c.*59C>A NP_001158302.1:n.*59C>A
NM_001291967.1:c.*59C>A NP_001278896.1:n.*59C>A
NM_001291968.1:c.*59C>A NP_001278897.1:n.*59C>A
NM_001738.4:c.*59C>A NP_001729.1:n.*59C>A
XM_011517584.1:c.*59C>A XP_011515886.1:n.*59C>A
NM_001128829.4:c.*59C>A NP_001122301.1:n.*59C>A
NM_001128830.4:c.*59C>A NP_001122302.1:n.*59C>A
NM_001128831.4:c.*59C>A MANE Select NP_001122303.1:n.*59C>A
NM_001164830.2:c.*59C>A NP_001158302.1:n.*59C>A
NM_001291967.2:c.*59C>A NP_001278896.1:n.*59C>A
NM_001291968.2:c.*59C>A NP_001278897.1:n.*59C>A
NM_001738.5:c.*59C>A NP_001729.1:n.*59C>A