Canonical Allele Identifier: CA8223546

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87926728G>C , CM000678.2:g.87926728G>C	GRCh38
NC_000016.9:g.87960334G>C , CM000678.1:g.87960334G>C	GRCh37
NC_000016.8:g.86517835G>C	NCBI36
NG_033227.1:g.14779C>G
NG_033227.2:g.14802C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.340+20C>G MANE Select	NP_001730.1:n.340+20C>G
ENST00000649794.3:c.340+20C>G MANE Select	ENSP00000498065.2:n.340+20C>G
NM_001367225.1:c.340+20C>G	NP_001354154.1:n.340+20C>G
NM_001739.1:c.340+20C>G	NP_001730.1:n.340+20C>G
NR_159798.1:n.419+20C>G
NR_159799.1:n.419+20C>G
ENST00000309893.3:c.340+20C>G	ENSP00000309649.2:n.340+20C>G
ENST00000568801.1:n.419+20C>G
ENST00000648022.1:c.340+20C>G	ENSP00000497934.1:n.340+20C>G
ENST00000648177.1:c.340+20C>G	ENSP00000497626.1:n.340+20C>G
ENST00000649158.1:c.340+20C>G	ENSP00000496993.1:n.340+20C>G
XM_005256134.3:c.340+20C>G	XP_005256191.1:n.340+20C>G
XM_005256134.4:c.340+20C>G	XP_005256191.1:n.340+20C>G
XM_011523309.1:c.340+20C>G	XP_011521611.1:n.340+20C>G
XM_011523309.2:c.340+20C>G	XP_011521611.1:n.340+20C>G
XM_011523310.1:c.340+20C>G	XP_011521612.1:n.340+20C>G
XM_017023646.1:c.340+20C>G	XP_016879135.1:n.340+20C>G
XM_024450434.1:c.81+20C>G	XP_024306202.1:n.81+20C>G
XR_002957839.1:n.465+20C>G
XR_933417.1:n.459+20C>G