Canonical Allele Identifier: CA2240751770
Community Standard Title: NM_001739.2(CA5A):c.697T= (p.Ser233=)
Gene: CA5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.87891876A= , CM000678.2:g.87891876A= GRCh38
NC_000016.9:g.87925482A= , CM000678.1:g.87925482A= GRCh37
NC_000016.8:g.86482983A= NCBI36
NG_033227.1:g.49631T=
NG_033227.2:g.49654T=

Transcript Alleles

HGVS Amino-acid Change
NM_001739.2:c.697T= MANE Select NP_001730.1:p.Ser233=
ENST00000649794.3:c.697T= MANE Select ENSP00000498065.2:p.Ser233=
NM_001367225.1:c.697T= NP_001354154.1:p.Ser233=
NM_001739.1:c.697T= NP_001730.1:p.Ser233=
NR_159798.1:n.884T=
NR_159799.1:n.657T=
ENST00000309893.3:c.697T= ENSP00000309649.2:p.Ser233=
ENST00000566402.2:n.393T=
ENST00000648022.1:c.*136T= ENSP00000497934.1:n.*136T=
ENST00000648177.1:c.515T= ENSP00000497626.1:p.Leu172=
ENST00000649158.1:c.697T= ENSP00000496993.1:p.Ser233=
XM_017023646.1:c.697T= XP_016879135.1:p.Ser233=
XM_024450434.1:c.319T= XP_024306202.1:p.Ser107=
XR_002957839.1:n.930T=