Canonical Allele Identifier: CA397039920

Gene: CA5A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.87891890C>T , CM000678.2:g.87891890C>T	GRCh38
NC_000016.9:g.87925496C>T , CM000678.1:g.87925496C>T	GRCh37
NC_000016.8:g.86482997C>T	NCBI36
NG_033227.1:g.49617G>A
NG_033227.2:g.49640G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001739.2:c.683G>A MANE Select	NP_001730.1:p.Trp228Ter
ENST00000649794.3:c.683G>A MANE Select	ENSP00000498065.2:p.Trp228Ter
NM_001367225.1:c.683G>A	NP_001354154.1:p.Trp228Ter
NM_001739.1:c.683G>A	NP_001730.1:p.Trp228Ter
NR_159798.1:n.870G>A
NR_159799.1:n.643G>A
ENST00000309893.3:c.683G>A	ENSP00000309649.2:p.Trp228Ter
ENST00000566402.2:n.379G>A
ENST00000648022.1:c.*122G>A	ENSP00000497934.1:n.*122G>A
ENST00000648177.1:c.501G>A	ENSP00000497626.1:p.Leu167=
ENST00000649158.1:c.683G>A	ENSP00000496993.1:p.Trp228Ter
XM_017023646.1:c.683G>A	XP_016879135.1:p.Trp228Ter
XM_024450434.1:c.305G>A	XP_024306202.1:p.Trp102Ter
XR_002957839.1:n.916G>A
XR_933417.1:n.910G>A