Canonical Allele Identifier: CA397041818
Gene: CA5A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87902469C>G , CM000678.2:g.87902469C>G GRCh38
NC_000016.9:g.87936075C>G , CM000678.1:g.87936075C>G GRCh37
NC_000016.8:g.86493576C>G NCBI36
NG_033227.1:g.39038G>C
NG_033227.2:g.39061G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648022.1:c.511G>C ENSP00000497934.1:p.Val171Leu
ENST00000648177.1:c.392G>C ENSP00000497626.1:p.Cys131Ser
ENST00000649158.1:c.511G>C ENSP00000496993.1:p.Val171Leu
ENST00000649794.3:c.511G>C MANE Select ENSP00000498065.2:p.Val171Leu
ENST00000309893.3:c.511G>C ENSP00000309649.2:p.Val171Leu
NM_001739.1:c.511G>C NP_001730.1:p.Val171Leu
XM_011523309.1:c.511G>C XP_011521611.1:p.Val171Leu
XM_011523310.1:c.511G>C XP_011521612.1:p.Val171Leu
XR_933417.1:n.630G>C
NM_001739.2:c.511G>C MANE Select NP_001730.1:p.Val171Leu
XM_011523309.2:c.511G>C XP_011521611.1:p.Val171Leu
XM_017023646.1:c.511G>C XP_016879135.1:p.Val171Leu
XM_024450434.1:c.133G>C XP_024306202.1:p.Val45Leu
XR_002957839.1:n.636G>C
NM_001367225.1:c.511G>C NP_001354154.1:p.Val171Leu
NR_159798.1:n.590G>C
NR_159799.1:n.471G>C