Canonical Allele Identifier: CA277100757
Gene: ZNF500 HGNC NCBI

Linked Data

ClinVar Variation Id: 2311450
ClinVar RCV Id: RCV004160415
dbSNP Id: rs200227773
gnomAD v2: 16-4812300-G-C
gnomAD v3: 16-4762299-G-C
gnomAD v4: 16-4762299-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762299G>C , CM000678.2:g.4762299G>C GRCh38
NC_000016.9:g.4812300G>C , CM000678.1:g.4812300G>C GRCh37
NC_000016.8:g.4752301G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.635C>G MANE Select ENSP00000219478.5:p.Ala212Gly
ENST00000219478.10:c.635C>G ENSP00000219478.5:p.Ala212Gly
ENST00000545009.1:c.635C>G ENSP00000445714.1:p.Ala212Gly
ENST00000589422.1:c.*163C>G ENSP00000466375.1:n.*163C>G
NM_001303450.1:c.635C>G NP_001290379.1:p.Ala212Gly
NM_021646.2:c.635C>G NP_067678.1:p.Ala212Gly
XM_005255243.2:c.284C>G XP_005255300.1:p.Ala95Gly
XM_011522453.1:c.635C>G XP_011520755.1:p.Ala212Gly
XM_011522454.1:c.11C>G XP_011520756.1:p.Ala4Gly
NM_021646.3:c.635C>G NP_067678.1:p.Ala212Gly
XM_005255243.4:c.284C>G XP_005255300.1:p.Ala95Gly
XM_011522453.2:c.635C>G XP_011520755.1:p.Ala212Gly
XM_011522454.3:c.11C>G XP_011520756.1:p.Ala4Gly
XM_017023121.2:c.11C>G XP_016878610.1:p.Ala4Gly
NM_001303450.2:c.635C>G NP_001290379.1:p.Ala212Gly
NM_021646.4:c.635C>G MANE Select NP_067678.1:p.Ala212Gly