Canonical Allele Identifier: CA397041049
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.555G>T ENSP00000497934.1:p.Lys185Asn
ENST00000648177.1:c.436G>T ENSP00000497626.1:p.Gly146Ter
ENST00000649158.1:c.555G>T ENSP00000496993.1:p.Lys185Asn
ENST00000649794.3:c.555G>T MANE Select ENSP00000498065.2:p.Lys185Asn
ENST00000309893.3:c.555G>T ENSP00000309649.2:p.Lys185Asn
NM_001739.1:c.555G>T NP_001730.1:p.Lys185Asn
XM_011523309.1:c.555G>T XP_011521611.1:p.Lys185Asn
XM_011523310.1:c.555G>T XP_011521612.1:p.Lys185Asn
XR_933417.1:n.674G>T
NM_001739.2:c.555G>T MANE Select NP_001730.1:p.Lys185Asn
XM_011523309.2:c.555G>T XP_011521611.1:p.Lys185Asn
XM_017023646.1:c.555G>T XP_016879135.1:p.Lys185Asn
XM_024450434.1:c.177G>T XP_024306202.1:p.Lys59Asn
XR_002957839.1:n.680G>T
NM_001367225.1:c.555G>T NP_001354154.1:p.Lys185Asn
NR_159798.1:n.634G>T
NR_159799.1:n.515G>T