Canonical Allele Identifier: CA397042022
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902519A>C , CM000678.2:g.87902519A>C GRCh38
NC_000016.9:g.87936125A>C , CM000678.1:g.87936125A>C GRCh37
NC_000016.8:g.86493626A>C NCBI36
NG_033227.1:g.38988T>G
NG_033227.2:g.39011T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.461T>G ENSP00000497934.1:p.Leu154Arg
ENST00000648177.1:c.342T>G ENSP00000497626.1:p.Ala114=
ENST00000649158.1:c.461T>G ENSP00000496993.1:p.Leu154Arg
ENST00000649794.3:c.461T>G MANE Select ENSP00000498065.2:p.Leu154Arg
ENST00000309893.3:c.461T>G ENSP00000309649.2:p.Leu154Arg
NM_001739.1:c.461T>G NP_001730.1:p.Leu154Arg
XM_011523309.1:c.461T>G XP_011521611.1:p.Leu154Arg
XM_011523310.1:c.461T>G XP_011521612.1:p.Leu154Arg
XR_933417.1:n.580T>G
NM_001739.2:c.461T>G MANE Select NP_001730.1:p.Leu154Arg
XM_011523309.2:c.461T>G XP_011521611.1:p.Leu154Arg
XM_017023646.1:c.461T>G XP_016879135.1:p.Leu154Arg
XM_024450434.1:c.83T>G XP_024306202.1:p.Leu28Arg
XR_002957839.1:n.586T>G
NM_001367225.1:c.461T>G NP_001354154.1:p.Leu154Arg
NR_159798.1:n.540T>G
NR_159799.1:n.421T>G