Canonical Allele Identifier: CA8223640
Community Standard Title: NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)
Gene: CA5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87936357G>A , CM000678.2:g.87936357G>A GRCh38
NC_000016.9:g.87969963G>A , CM000678.1:g.87969963G>A GRCh37
NC_000016.8:g.86527464G>A NCBI36
NG_033227.1:g.5150C>T
NG_033227.2:g.5173C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001739.2:c.94C>T MANE Select NP_001730.1:p.Arg32Ter
ENST00000649794.3:c.94C>T MANE Select ENSP00000498065.2:p.Arg32Ter
NM_001367225.1:c.94C>T NP_001354154.1:p.Arg32Ter
NM_001739.1:c.94C>T NP_001730.1:p.Arg32Ter
NR_159798.1:n.173C>T
NR_159799.1:n.173C>T
ENST00000309893.3:c.94C>T ENSP00000309649.2:p.Arg32Ter
ENST00000568801.1:n.173C>T
ENST00000648022.1:c.94C>T ENSP00000497934.1:p.Arg32Ter
ENST00000648177.1:c.94C>T ENSP00000497626.1:p.Arg32Ter
ENST00000649158.1:c.94C>T ENSP00000496993.1:p.Arg32Ter
XM_005256134.3:c.94C>T XP_005256191.1:p.Arg32Ter
XM_005256134.4:c.94C>T XP_005256191.1:p.Arg32Ter
XM_011523309.1:c.94C>T XP_011521611.1:p.Arg32Ter
XM_011523309.2:c.94C>T XP_011521611.1:p.Arg32Ter
XM_011523310.1:c.94C>T XP_011521612.1:p.Arg32Ter
XM_017023646.1:c.94C>T XP_016879135.1:p.Arg32Ter
XM_024450434.1:c.-166C>T XP_024306202.1:n.-166C>T
XR_002957839.1:n.219C>T
XR_933417.1:n.213C>T