Canonical Allele Identifier: CA8223232

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87888179G>A , CM000678.2:g.87888179G>A	GRCh38
NC_000016.9:g.87921785G>A , CM000678.1:g.87921785G>A	GRCh37
NC_000016.8:g.86479286G>A	NCBI36
NG_033227.1:g.53328C>T
NG_033227.2:g.53351C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.868C>T MANE Select	NP_001730.1:p.Arg290Trp
ENST00000649794.3:c.868C>T MANE Select	ENSP00000498065.2:p.Arg290Trp
NM_001367225.1:c.774+3620C>T	NP_001354154.1:n.774+3620C>T
NM_001739.1:c.868C>T	NP_001730.1:p.Arg290Trp
NR_159798.1:n.1055C>T
NR_159799.1:n.828C>T
ENST00000309893.3:c.868C>T	ENSP00000309649.2:p.Arg290Trp
ENST00000566402.2:n.564C>T
ENST00000648022.1:c.*307C>T	ENSP00000497934.1:n.*307C>T
ENST00000648177.1:c.*16+3620C>T	ENSP00000497626.1:n.*16+3620C>T
ENST00000649158.1:c.774+3620C>T	ENSP00000496993.1:n.774+3620C>T
XM_024450434.1:c.490C>T	XP_024306202.1:p.Arg164Trp
XR_002957839.1:n.1101C>T