Canonical Allele Identifier: CA8223295

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87891824T>C , CM000678.2:g.87891824T>C	GRCh38
NC_000016.9:g.87925430T>C , CM000678.1:g.87925430T>C	GRCh37
NC_000016.8:g.86482931T>C	NCBI36
NG_033227.1:g.49683A>G
NG_033227.2:g.49706A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.749A>G MANE Select	NP_001730.1:p.Glu250Gly
ENST00000649794.3:c.749A>G MANE Select	ENSP00000498065.2:p.Glu250Gly
NM_001367225.1:c.749A>G	NP_001354154.1:p.Glu250Gly
NM_001739.1:c.749A>G	NP_001730.1:p.Glu250Gly
NR_159798.1:n.936A>G
NR_159799.1:n.709A>G
ENST00000309893.3:c.749A>G	ENSP00000309649.2:p.Glu250Gly
ENST00000566402.2:n.445A>G
ENST00000648022.1:c.*188A>G	ENSP00000497934.1:n.*188A>G
ENST00000648177.1:c.567A>G	ENSP00000497626.1:p.Gly189=
ENST00000649158.1:c.749A>G	ENSP00000496993.1:p.Glu250Gly
XM_017023646.1:c.749A>G	XP_016879135.1:p.Glu250Gly
XM_024450434.1:c.371A>G	XP_024306202.1:p.Glu124Gly
XR_002957839.1:n.982A>G