Canonical Allele Identifier: CA7881468

Gene: ZNF500

Linked Data

• dbSNP Id: rs780543381
• ExAC: 16:4812619 G / C
• gnomAD v2: 16-4812619-G-C
• gnomAD v3: 16-4762618-G-C
• gnomAD v4: 16-4762618-G-C
• MyVariant Identifiers: chr16:g.4812619G>C (hg19) ; chr16:g.4762618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762618G>C , CM000678.2:g.4762618G>C	GRCh38
NC_000016.9:g.4812619G>C , CM000678.1:g.4812619G>C	GRCh37
NC_000016.8:g.4752620G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000219478.11:c.553C>G MANE Select	ENSP00000219478.5:p.Leu185Val
ENST00000219478.10:c.553C>G	ENSP00000219478.5:p.Leu185Val
ENST00000545009.1:c.553C>G	ENSP00000445714.1:p.Leu185Val
ENST00000589422.1:c.*81C>G	ENSP00000466375.1:n.*81C>G
NM_001303450.1:c.553C>G	NP_001290379.1:p.Leu185Val
NM_021646.2:c.553C>G	NP_067678.1:p.Leu185Val
XM_005255243.2:c.202C>G	XP_005255300.1:p.Leu68Val
XM_011522453.1:c.553C>G	XP_011520755.1:p.Leu185Val
XM_011522454.1:c.-72C>G	XP_011520756.1:n.-72C>G
NM_021646.3:c.553C>G	NP_067678.1:p.Leu185Val
XM_005255243.4:c.202C>G	XP_005255300.1:p.Leu68Val
XM_011522453.2:c.553C>G	XP_011520755.1:p.Leu185Val
XM_011522454.3:c.-72C>G	XP_011520756.1:n.-72C>G
XM_017023121.2:c.-72C>G	XP_016878610.1:n.-72C>G
NM_001303450.2:c.553C>G	NP_001290379.1:p.Leu185Val
NM_021646.4:c.553C>G MANE Select	NP_067678.1:p.Leu185Val