Canonical Allele Identifier: CA394620216
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs1234159290
gnomAD v2: 16-4812276-G-C
gnomAD v4: 16-4762275-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762275G>C , CM000678.2:g.4762275G>C GRCh38
NC_000016.9:g.4812276G>C , CM000678.1:g.4812276G>C GRCh37
NC_000016.8:g.4752277G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.659C>G MANE Select ENSP00000219478.5:p.Ser220Cys
ENST00000219478.10:c.659C>G ENSP00000219478.5:p.Ser220Cys
ENST00000545009.1:c.659C>G ENSP00000445714.1:p.Ser220Cys
ENST00000589422.1:c.*187C>G ENSP00000466375.1:n.*187C>G
NM_001303450.1:c.659C>G NP_001290379.1:p.Ser220Cys
NM_021646.2:c.659C>G NP_067678.1:p.Ser220Cys
XM_005255243.2:c.308C>G XP_005255300.1:p.Ser103Cys
XM_011522453.1:c.659C>G XP_011520755.1:p.Ser220Cys
XM_011522454.1:c.35C>G XP_011520756.1:p.Ser12Cys
NM_021646.3:c.659C>G NP_067678.1:p.Ser220Cys
XM_005255243.4:c.308C>G XP_005255300.1:p.Ser103Cys
XM_011522453.2:c.659C>G XP_011520755.1:p.Ser220Cys
XM_011522454.3:c.35C>G XP_011520756.1:p.Ser12Cys
XM_017023121.2:c.35C>G XP_016878610.1:p.Ser12Cys
NM_001303450.2:c.659C>G NP_001290379.1:p.Ser220Cys
NM_021646.4:c.659C>G MANE Select NP_067678.1:p.Ser220Cys