Canonical Allele Identifier: CA7881454

Gene: ZNF500

Linked Data

• dbSNP Id: rs148253971
• ExAC: 16:4812572 A / T
• gnomAD v2: 16-4812572-A-T
• gnomAD v4: 16-4762571-A-T
• MyVariant Identifiers: chr16:g.4812572A>T (hg19) ; chr16:g.4762571A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762571A>T , CM000678.2:g.4762571A>T	GRCh38
NC_000016.9:g.4812572A>T , CM000678.1:g.4812572A>T	GRCh37
NC_000016.8:g.4752573A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.598+2T>A MANE Select	ENSP00000219478.5:n.598+2T>A
ENST00000219478.10:c.598+2T>A	ENSP00000219478.5:n.598+2T>A
ENST00000545009.1:c.598+2T>A	ENSP00000445714.1:n.598+2T>A
ENST00000589422.1:c.*126+2T>A	ENSP00000466375.1:n.*126+2T>A
NM_001303450.1:c.598+2T>A	NP_001290379.1:n.598+2T>A
NM_021646.2:c.598+2T>A	NP_067678.1:n.598+2T>A
XM_005255243.2:c.247+2T>A	XP_005255300.1:n.247+2T>A
XM_011522453.1:c.598+2T>A	XP_011520755.1:n.598+2T>A
XM_011522454.1:c.-27+2T>A	XP_011520756.1:n.-27+2T>A
NM_021646.3:c.598+2T>A	NP_067678.1:n.598+2T>A
XM_005255243.4:c.247+2T>A	XP_005255300.1:n.247+2T>A
XM_011522453.2:c.598+2T>A	XP_011520755.1:n.598+2T>A
XM_011522454.3:c.-27+2T>A	XP_011520756.1:n.-27+2T>A
XM_017023121.2:c.-27+2T>A	XP_016878610.1:n.-27+2T>A
NM_001303450.2:c.598+2T>A	NP_001290379.1:n.598+2T>A
NM_021646.4:c.598+2T>A MANE Select	NP_067678.1:n.598+2T>A