Canonical Allele Identifier: CA394620304

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762317-T-C
• MyVariant Identifiers: chr16:g.4812318T>C (hg19) ; chr16:g.4762317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762317T>C , CM000678.2:g.4762317T>C	GRCh38
NC_000016.9:g.4812318T>C , CM000678.1:g.4812318T>C	GRCh37
NC_000016.8:g.4752319T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.617A>G MANE Select	ENSP00000219478.5:p.His206Arg
ENST00000219478.10:c.617A>G	ENSP00000219478.5:p.His206Arg
ENST00000545009.1:c.617A>G	ENSP00000445714.1:p.His206Arg
ENST00000589422.1:c.*145A>G	ENSP00000466375.1:n.*145A>G
NM_001303450.1:c.617A>G	NP_001290379.1:p.His206Arg
NM_021646.2:c.617A>G	NP_067678.1:p.His206Arg
XM_005255243.2:c.266A>G	XP_005255300.1:p.His89Arg
XM_011522453.1:c.617A>G	XP_011520755.1:p.His206Arg
XM_011522454.1:c.-8A>G	XP_011520756.1:n.-8A>G
NM_021646.3:c.617A>G	NP_067678.1:p.His206Arg
XM_005255243.4:c.266A>G	XP_005255300.1:p.His89Arg
XM_011522453.2:c.617A>G	XP_011520755.1:p.His206Arg
XM_011522454.3:c.-8A>G	XP_011520756.1:n.-8A>G
XM_017023121.2:c.-8A>G	XP_016878610.1:n.-8A>G
NM_001303450.2:c.617A>G	NP_001290379.1:p.His206Arg
NM_021646.4:c.617A>G MANE Select	NP_067678.1:p.His206Arg