Canonical Allele Identifier: CA620716819
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs1326213393
gnomAD v2: 16-4812542-A-G
gnomAD v4: 16-4762541-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762541A>G , CM000678.2:g.4762541A>G GRCh38
NC_000016.9:g.4812542A>G , CM000678.1:g.4812542A>G GRCh37
NC_000016.8:g.4752543A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.598+32T>C MANE Select ENSP00000219478.5:n.598+32T>C
ENST00000219478.10:c.598+32T>C ENSP00000219478.5:n.598+32T>C
ENST00000545009.1:c.598+32T>C ENSP00000445714.1:n.598+32T>C
ENST00000589422.1:c.*126+32T>C ENSP00000466375.1:n.*126+32T>C
NM_001303450.1:c.598+32T>C NP_001290379.1:n.598+32T>C
NM_021646.2:c.598+32T>C NP_067678.1:n.598+32T>C
XM_005255243.2:c.247+32T>C XP_005255300.1:n.247+32T>C
XM_011522453.1:c.598+32T>C XP_011520755.1:n.598+32T>C
XM_011522454.1:c.-27+32T>C XP_011520756.1:n.-27+32T>C
NM_021646.3:c.598+32T>C NP_067678.1:n.598+32T>C
XM_005255243.4:c.247+32T>C XP_005255300.1:n.247+32T>C
XM_011522453.2:c.598+32T>C XP_011520755.1:n.598+32T>C
XM_011522454.3:c.-27+32T>C XP_011520756.1:n.-27+32T>C
XM_017023121.2:c.-27+32T>C XP_016878610.1:n.-27+32T>C
NM_001303450.2:c.598+32T>C NP_001290379.1:n.598+32T>C
NM_021646.4:c.598+32T>C MANE Select NP_067678.1:n.598+32T>C