Canonical Allele Identifier: CA394620381
Gene: ZNF500 HGNC NCBI

Linked Data

gnomAD v4: 16-4762588-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762588A>T , CM000678.2:g.4762588A>T GRCh38
NC_000016.9:g.4812589A>T , CM000678.1:g.4812589A>T GRCh37
NC_000016.8:g.4752590A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.583T>A MANE Select ENSP00000219478.5:p.Leu195Met
ENST00000219478.10:c.583T>A ENSP00000219478.5:p.Leu195Met
ENST00000545009.1:c.583T>A ENSP00000445714.1:p.Leu195Met
ENST00000589422.1:c.*111T>A ENSP00000466375.1:n.*111T>A
NM_001303450.1:c.583T>A NP_001290379.1:p.Leu195Met
NM_021646.2:c.583T>A NP_067678.1:p.Leu195Met
XM_005255243.2:c.232T>A XP_005255300.1:p.Leu78Met
XM_011522453.1:c.583T>A XP_011520755.1:p.Leu195Met
XM_011522454.1:c.-42T>A XP_011520756.1:n.-42T>A
NM_021646.3:c.583T>A NP_067678.1:p.Leu195Met
XM_005255243.4:c.232T>A XP_005255300.1:p.Leu78Met
XM_011522453.2:c.583T>A XP_011520755.1:p.Leu195Met
XM_011522454.3:c.-42T>A XP_011520756.1:n.-42T>A
XM_017023121.2:c.-42T>A XP_016878610.1:n.-42T>A
NM_001303450.2:c.583T>A NP_001290379.1:p.Leu195Met
NM_021646.4:c.583T>A MANE Select NP_067678.1:p.Leu195Met