Canonical Allele Identifier: CA397041764
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902462C>A , CM000678.2:g.87902462C>A GRCh38
NC_000016.9:g.87936068C>A , CM000678.1:g.87936068C>A GRCh37
NC_000016.8:g.86493569C>A NCBI36
NG_033227.1:g.39045G>T
NG_033227.2:g.39068G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.518G>T ENSP00000497934.1:p.Gly173Val
ENST00000648177.1:c.399G>T ENSP00000497626.1:p.Gly133=
ENST00000649158.1:c.518G>T ENSP00000496993.1:p.Gly173Val
ENST00000649794.3:c.518G>T MANE Select ENSP00000498065.2:p.Gly173Val
ENST00000309893.3:c.518G>T ENSP00000309649.2:p.Gly173Val
NM_001739.1:c.518G>T NP_001730.1:p.Gly173Val
XM_011523309.1:c.518G>T XP_011521611.1:p.Gly173Val
XM_011523310.1:c.518G>T XP_011521612.1:p.Gly173Val
XR_933417.1:n.637G>T
NM_001739.2:c.518G>T MANE Select NP_001730.1:p.Gly173Val
XM_011523309.2:c.518G>T XP_011521611.1:p.Gly173Val
XM_017023646.1:c.518G>T XP_016879135.1:p.Gly173Val
XM_024450434.1:c.140G>T XP_024306202.1:p.Gly47Val
XR_002957839.1:n.643G>T
NM_001367225.1:c.518G>T NP_001354154.1:p.Gly173Val
NR_159798.1:n.597G>T
NR_159799.1:n.478G>T