Canonical Allele Identifier: CA345529
Gene: CA5A HGNC NCBI

Linked Data

ClinVar Variation Id: 127088
dbSNP Id: rs147623570

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902425C>T , CM000678.2:g.87902425C>T GRCh38
NC_000016.9:g.87936031C>T , CM000678.1:g.87936031C>T GRCh37
NC_000016.8:g.86493532C>T NCBI36
NG_033227.1:g.39082G>A
NG_033227.2:g.39105G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648022.1:c.555G>A ENSP00000497934.1:p.Lys185=
ENST00000648177.1:c.436G>A ENSP00000497626.1:p.Gly146Arg
ENST00000649158.1:c.555G>A ENSP00000496993.1:p.Lys185=
ENST00000649794.3:c.555G>A MANE Select ENSP00000498065.2:p.Lys185=
ENST00000309893.3:c.555G>A ENSP00000309649.2:p.Lys185=
NM_001739.1:c.555G>A NP_001730.1:p.Lys185=
XM_011523309.1:c.555G>A XP_011521611.1:p.Lys185=
XM_011523310.1:c.555G>A XP_011521612.1:p.Lys185=
XR_933417.1:n.674G>A
NM_001739.2:c.555G>A MANE Select NP_001730.1:p.Lys185=
XM_011523309.2:c.555G>A XP_011521611.1:p.Lys185=
XM_017023646.1:c.555G>A XP_016879135.1:p.Lys185=
XM_024450434.1:c.177G>A XP_024306202.1:p.Lys59=
XR_002957839.1:n.680G>A
NM_001367225.1:c.555G>A NP_001354154.1:p.Lys185=
NR_159798.1:n.634G>A
NR_159799.1:n.515G>A