Canonical Allele Identifier: CA394621238
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs1373301929
gnomAD v2: 16-4812712-C-T
gnomAD v3: 16-4762711-C-T
gnomAD v4: 16-4762711-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762711C>T , CM000678.2:g.4762711C>T GRCh38
NC_000016.9:g.4812712C>T , CM000678.1:g.4812712C>T GRCh37
NC_000016.8:g.4752713C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000219478.11:c.460G>A MANE Select ENSP00000219478.5:p.Gly154Arg
ENST00000219478.10:c.460G>A ENSP00000219478.5:p.Gly154Arg
ENST00000545009.1:c.460G>A ENSP00000445714.1:p.Gly154Arg
ENST00000589422.1:c.417G>A ENSP00000466375.1:p.Gly139=
NM_001303450.1:c.460G>A NP_001290379.1:p.Gly154Arg
NM_021646.2:c.460G>A NP_067678.1:p.Gly154Arg
XM_005255243.2:c.109G>A XP_005255300.1:p.Gly37Arg
XM_011522453.1:c.460G>A XP_011520755.1:p.Gly154Arg
XM_011522454.1:c.-165G>A XP_011520756.1:n.-165G>A
NM_021646.3:c.460G>A NP_067678.1:p.Gly154Arg
XM_005255243.4:c.109G>A XP_005255300.1:p.Gly37Arg
XM_011522453.2:c.460G>A XP_011520755.1:p.Gly154Arg
XM_011522454.3:c.-165G>A XP_011520756.1:n.-165G>A
XM_017023121.2:c.-165G>A XP_016878610.1:n.-165G>A
NM_001303450.2:c.460G>A NP_001290379.1:p.Gly154Arg
NM_021646.4:c.460G>A MANE Select NP_067678.1:p.Gly154Arg