Canonical Allele Identifier: CA394621329
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs148984278
gnomAD v2: 16-4812734-G-T
gnomAD v4: 16-4762733-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762733G>T , CM000678.2:g.4762733G>T GRCh38
NC_000016.9:g.4812734G>T , CM000678.1:g.4812734G>T GRCh37
NC_000016.8:g.4752735G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.438C>A MANE Select ENSP00000219478.5:p.Asp146Glu
ENST00000219478.10:c.438C>A ENSP00000219478.5:p.Asp146Glu
ENST00000545009.1:c.438C>A ENSP00000445714.1:p.Asp146Glu
ENST00000589422.1:c.415-20C>A ENSP00000466375.1:n.415-20C>A
NM_001303450.1:c.438C>A NP_001290379.1:p.Asp146Glu
NM_021646.2:c.438C>A NP_067678.1:p.Asp146Glu
XM_005255243.2:c.87C>A XP_005255300.1:p.Asp29Glu
XM_011522453.1:c.438C>A XP_011520755.1:p.Asp146Glu
XM_011522454.1:c.-167-20C>A XP_011520756.1:n.-167-20C>A
NM_021646.3:c.438C>A NP_067678.1:p.Asp146Glu
XM_005255243.4:c.87C>A XP_005255300.1:p.Asp29Glu
XM_011522453.2:c.438C>A XP_011520755.1:p.Asp146Glu
XM_011522454.3:c.-167-20C>A XP_011520756.1:n.-167-20C>A
XM_017023121.2:c.-187C>A XP_016878610.1:n.-187C>A
NM_001303450.2:c.438C>A NP_001290379.1:p.Asp146Glu
NM_021646.4:c.438C>A MANE Select NP_067678.1:p.Asp146Glu