Canonical Allele Identifier: CA397041994
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902506G>T , CM000678.2:g.87902506G>T GRCh38
NC_000016.9:g.87936112G>T , CM000678.1:g.87936112G>T GRCh37
NC_000016.8:g.86493613G>T NCBI36
NG_033227.1:g.39001C>A
NG_033227.2:g.39024C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.474C>A ENSP00000497934.1:p.His158Gln
ENST00000648177.1:c.355C>A ENSP00000497626.1:p.Leu119Met
ENST00000649158.1:c.474C>A ENSP00000496993.1:p.His158Gln
ENST00000649794.3:c.474C>A MANE Select ENSP00000498065.2:p.His158Gln
ENST00000309893.3:c.474C>A ENSP00000309649.2:p.His158Gln
NM_001739.1:c.474C>A NP_001730.1:p.His158Gln
XM_011523309.1:c.474C>A XP_011521611.1:p.His158Gln
XM_011523310.1:c.474C>A XP_011521612.1:p.His158Gln
XR_933417.1:n.593C>A
NM_001739.2:c.474C>A MANE Select NP_001730.1:p.His158Gln
XM_011523309.2:c.474C>A XP_011521611.1:p.His158Gln
XM_017023646.1:c.474C>A XP_016879135.1:p.His158Gln
XM_024450434.1:c.96C>A XP_024306202.1:p.His32Gln
XR_002957839.1:n.599C>A
NM_001367225.1:c.474C>A NP_001354154.1:p.His158Gln
NR_159798.1:n.553C>A
NR_159799.1:n.434C>A