Canonical Allele Identifier: CA8223254

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87888259C>T , CM000678.2:g.87888259C>T	GRCh38
NC_000016.9:g.87921865C>T , CM000678.1:g.87921865C>T	GRCh37
NC_000016.8:g.86479366C>T	NCBI36
NG_033227.1:g.53248G>A
NG_033227.2:g.53271G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.788G>A MANE Select	NP_001730.1:p.Arg263His
ENST00000649794.3:c.788G>A MANE Select	ENSP00000498065.2:p.Arg263His
NM_001367225.1:c.774+3540G>A	NP_001354154.1:n.774+3540G>A
NM_001739.1:c.788G>A	NP_001730.1:p.Arg263His
NR_159798.1:n.975G>A
NR_159799.1:n.748G>A
ENST00000309893.3:c.788G>A	ENSP00000309649.2:p.Arg263His
ENST00000566402.2:n.484G>A
ENST00000648022.1:c.*227G>A	ENSP00000497934.1:n.*227G>A
ENST00000648177.1:c.*16+3540G>A	ENSP00000497626.1:n.*16+3540G>A
ENST00000649158.1:c.774+3540G>A	ENSP00000496993.1:n.774+3540G>A
XM_024450434.1:c.410G>A	XP_024306202.1:p.Arg137His
XR_002957839.1:n.1021G>A