Canonical Allele Identifier: CA7881466

Gene: ZNF500

Linked Data

• dbSNP Id: rs746636046
• ExAC: 16:4812607 G / T
• gnomAD v2: 16-4812607-G-T
• gnomAD v4: 16-4762606-G-T
• MyVariant Identifiers: chr16:g.4812607G>T (hg19) ; chr16:g.4762606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762606G>T , CM000678.2:g.4762606G>T	GRCh38
NC_000016.9:g.4812607G>T , CM000678.1:g.4812607G>T	GRCh37
NC_000016.8:g.4752608G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000219478.11:c.565C>A MANE Select	ENSP00000219478.5:p.Pro189Thr
ENST00000219478.10:c.565C>A	ENSP00000219478.5:p.Pro189Thr
ENST00000545009.1:c.565C>A	ENSP00000445714.1:p.Pro189Thr
ENST00000589422.1:c.*93C>A	ENSP00000466375.1:n.*93C>A
NM_001303450.1:c.565C>A	NP_001290379.1:p.Pro189Thr
NM_021646.2:c.565C>A	NP_067678.1:p.Pro189Thr
XM_005255243.2:c.214C>A	XP_005255300.1:p.Pro72Thr
XM_011522453.1:c.565C>A	XP_011520755.1:p.Pro189Thr
XM_011522454.1:c.-60C>A	XP_011520756.1:n.-60C>A
NM_021646.3:c.565C>A	NP_067678.1:p.Pro189Thr
XM_005255243.4:c.214C>A	XP_005255300.1:p.Pro72Thr
XM_011522453.2:c.565C>A	XP_011520755.1:p.Pro189Thr
XM_011522454.3:c.-60C>A	XP_011520756.1:n.-60C>A
XM_017023121.2:c.-60C>A	XP_016878610.1:n.-60C>A
NM_001303450.2:c.565C>A	NP_001290379.1:p.Pro189Thr
NM_021646.4:c.565C>A MANE Select	NP_067678.1:p.Pro189Thr