Canonical Allele Identifier: CA349720547
Gene: CWC22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.179945387T>G , CM000664.2:g.179945387T>G GRCh38
NC_000002.11:g.180810114T>G , CM000664.1:g.180810114T>G GRCh37
NC_000002.10:g.180518359T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410053.8:c.2469A>C MANE Select ENSP00000387006.3:p.Arg823Ser
ENST00000410053.7:c.2469A>C ENSP00000387006.3:p.Arg823Ser
NM_020943.2:c.2469A>C NP_065994.1:p.Arg823Ser
XM_005246726.1:c.2469A>C XP_005246783.1:p.Arg823Ser
XM_005246726.3:c.2469A>C XP_005246783.1:p.Arg823Ser
NM_020943.3:c.2469A>C MANE Select NP_065994.1:p.Arg823Ser
NM_001376029.1:c.2469A>C NP_001362958.1:p.Arg823Ser
NM_001376030.1:c.2469A>C NP_001362959.1:p.Arg823Ser
NM_001376032.1:c.2346A>C NP_001362961.1:p.Arg782Ser
NM_001376033.1:c.*325A>C NP_001362962.1:n.*325A>C