Canonical Allele Identifier: CA397041879
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902481A>G , CM000678.2:g.87902481A>G GRCh38
NC_000016.9:g.87936087A>G , CM000678.1:g.87936087A>G GRCh37
NC_000016.8:g.86493588A>G NCBI36
NG_033227.1:g.39026T>C
NG_033227.2:g.39049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.499T>C ENSP00000497934.1:p.Tyr167His
ENST00000648177.1:c.380T>C ENSP00000497626.1:p.Leu127Ser
ENST00000649158.1:c.499T>C ENSP00000496993.1:p.Tyr167His
ENST00000649794.3:c.499T>C MANE Select ENSP00000498065.2:p.Tyr167His
ENST00000309893.3:c.499T>C ENSP00000309649.2:p.Tyr167His
NM_001739.1:c.499T>C NP_001730.1:p.Tyr167His
XM_011523309.1:c.499T>C XP_011521611.1:p.Tyr167His
XM_011523310.1:c.499T>C XP_011521612.1:p.Tyr167His
XR_933417.1:n.618T>C
NM_001739.2:c.499T>C MANE Select NP_001730.1:p.Tyr167His
XM_011523309.2:c.499T>C XP_011521611.1:p.Tyr167His
XM_017023646.1:c.499T>C XP_016879135.1:p.Tyr167His
XM_024450434.1:c.121T>C XP_024306202.1:p.Tyr41His
XR_002957839.1:n.624T>C
NM_001367225.1:c.499T>C NP_001354154.1:p.Tyr167His
NR_159798.1:n.578T>C
NR_159799.1:n.459T>C