Canonical Allele Identifier: CA2631540357

Gene: ZNF500

Linked Data

• gnomAD v4: 16-4762531-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762531C>A , CM000678.2:g.4762531C>A	GRCh38
NC_000016.9:g.4812532C>A , CM000678.1:g.4812532C>A	GRCh37
NC_000016.8:g.4752533C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.598+42G>T MANE Select	ENSP00000219478.5:n.598+42G>T
ENST00000219478.10:c.598+42G>T	ENSP00000219478.5:n.598+42G>T
ENST00000545009.1:c.598+42G>T	ENSP00000445714.1:n.598+42G>T
ENST00000589422.1:c.*126+42G>T	ENSP00000466375.1:n.*126+42G>T
NM_001303450.1:c.598+42G>T	NP_001290379.1:n.598+42G>T
NM_021646.2:c.598+42G>T	NP_067678.1:n.598+42G>T
XM_005255243.2:c.247+42G>T	XP_005255300.1:n.247+42G>T
XM_011522453.1:c.598+42G>T	XP_011520755.1:n.598+42G>T
XM_011522454.1:c.-27+42G>T	XP_011520756.1:n.-27+42G>T
NM_021646.3:c.598+42G>T	NP_067678.1:n.598+42G>T
XM_005255243.4:c.247+42G>T	XP_005255300.1:n.247+42G>T
XM_011522453.2:c.598+42G>T	XP_011520755.1:n.598+42G>T
XM_011522454.3:c.-27+42G>T	XP_011520756.1:n.-27+42G>T
XM_017023121.2:c.-27+42G>T	XP_016878610.1:n.-27+42G>T
NM_001303450.2:c.598+42G>T	NP_001290379.1:n.598+42G>T
NM_021646.4:c.598+42G>T MANE Select	NP_067678.1:n.598+42G>T