Canonical Allele Identifier: CA8223599

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87926916C>T , CM000678.2:g.87926916C>T	GRCh38
NC_000016.9:g.87960522C>T , CM000678.1:g.87960522C>T	GRCh37
NC_000016.8:g.86518023C>T	NCBI36
NG_033227.1:g.14591G>A
NG_033227.2:g.14614G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.172G>A MANE Select	NP_001730.1:p.Val58Met
ENST00000649794.3:c.172G>A MANE Select	ENSP00000498065.2:p.Val58Met
NM_001367225.1:c.172G>A	NP_001354154.1:p.Val58Met
NM_001739.1:c.172G>A	NP_001730.1:p.Val58Met
NR_159798.1:n.251G>A
NR_159799.1:n.251G>A
ENST00000309893.3:c.172G>A	ENSP00000309649.2:p.Val58Met
ENST00000568801.1:n.251G>A
ENST00000648022.1:c.172G>A	ENSP00000497934.1:p.Val58Met
ENST00000648177.1:c.172G>A	ENSP00000497626.1:p.Val58Met
ENST00000649158.1:c.172G>A	ENSP00000496993.1:p.Val58Met
XM_005256134.3:c.172G>A	XP_005256191.1:p.Val58Met
XM_005256134.4:c.172G>A	XP_005256191.1:p.Val58Met
XM_011523309.1:c.172G>A	XP_011521611.1:p.Val58Met
XM_011523309.2:c.172G>A	XP_011521611.1:p.Val58Met
XM_011523310.1:c.172G>A	XP_011521612.1:p.Val58Met
XM_017023646.1:c.172G>A	XP_016879135.1:p.Val58Met
XM_024450434.1:c.-88G>A	XP_024306202.1:n.-88G>A
XR_002957839.1:n.297G>A
XR_933417.1:n.291G>A