Canonical Allele Identifier: CA394620379

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762587-A-G
• MyVariant Identifiers: chr16:g.4812588A>G (hg19) ; chr16:g.4762587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762587A>G , CM000678.2:g.4762587A>G	GRCh38
NC_000016.9:g.4812588A>G , CM000678.1:g.4812588A>G	GRCh37
NC_000016.8:g.4752589A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.584T>C MANE Select	ENSP00000219478.5:p.Leu195Ser
ENST00000219478.10:c.584T>C	ENSP00000219478.5:p.Leu195Ser
ENST00000545009.1:c.584T>C	ENSP00000445714.1:p.Leu195Ser
ENST00000589422.1:c.*112T>C	ENSP00000466375.1:n.*112T>C
NM_001303450.1:c.584T>C	NP_001290379.1:p.Leu195Ser
NM_021646.2:c.584T>C	NP_067678.1:p.Leu195Ser
XM_005255243.2:c.233T>C	XP_005255300.1:p.Leu78Ser
XM_011522453.1:c.584T>C	XP_011520755.1:p.Leu195Ser
XM_011522454.1:c.-41T>C	XP_011520756.1:n.-41T>C
NM_021646.3:c.584T>C	NP_067678.1:p.Leu195Ser
XM_005255243.4:c.233T>C	XP_005255300.1:p.Leu78Ser
XM_011522453.2:c.584T>C	XP_011520755.1:p.Leu195Ser
XM_011522454.3:c.-41T>C	XP_011520756.1:n.-41T>C
XM_017023121.2:c.-41T>C	XP_016878610.1:n.-41T>C
NM_001303450.2:c.584T>C	NP_001290379.1:p.Leu195Ser
NM_021646.4:c.584T>C MANE Select	NP_067678.1:p.Leu195Ser