Canonical Allele Identifier: CA397041097
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902436C>A , CM000678.2:g.87902436C>A GRCh38
NC_000016.9:g.87936042C>A , CM000678.1:g.87936042C>A GRCh37
NC_000016.8:g.86493543C>A NCBI36
NG_033227.1:g.39071G>T
NG_033227.2:g.39094G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.544G>T ENSP00000497934.1:p.Val182Leu
ENST00000648177.1:c.425G>T ENSP00000497626.1:p.Arg142Leu
ENST00000649158.1:c.544G>T ENSP00000496993.1:p.Val182Leu
ENST00000649794.3:c.544G>T MANE Select ENSP00000498065.2:p.Val182Leu
ENST00000309893.3:c.544G>T ENSP00000309649.2:p.Val182Leu
NM_001739.1:c.544G>T NP_001730.1:p.Val182Leu
XM_011523309.1:c.544G>T XP_011521611.1:p.Val182Leu
XM_011523310.1:c.544G>T XP_011521612.1:p.Val182Leu
XR_933417.1:n.663G>T
NM_001739.2:c.544G>T MANE Select NP_001730.1:p.Val182Leu
XM_011523309.2:c.544G>T XP_011521611.1:p.Val182Leu
XM_017023646.1:c.544G>T XP_016879135.1:p.Val182Leu
XM_024450434.1:c.166G>T XP_024306202.1:p.Val56Leu
XR_002957839.1:n.669G>T
NM_001367225.1:c.544G>T NP_001354154.1:p.Val182Leu
NR_159798.1:n.623G>T
NR_159799.1:n.504G>T