Canonical Allele Identifier: CA7881503
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs758737466
gnomAD v2: 16-4812730-C-T
gnomAD v3: 16-4762729-C-T
gnomAD v4: 16-4762729-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762729C>T , CM000678.2:g.4762729C>T GRCh38
NC_000016.9:g.4812730C>T , CM000678.1:g.4812730C>T GRCh37
NC_000016.8:g.4752731C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.442G>A MANE Select ENSP00000219478.5:p.Val148Met
ENST00000219478.10:c.442G>A ENSP00000219478.5:p.Val148Met
ENST00000545009.1:c.442G>A ENSP00000445714.1:p.Val148Met
ENST00000589422.1:c.415-16G>A ENSP00000466375.1:n.415-16G>A
NM_001303450.1:c.442G>A NP_001290379.1:p.Val148Met
NM_021646.2:c.442G>A NP_067678.1:p.Val148Met
XM_005255243.2:c.91G>A XP_005255300.1:p.Val31Met
XM_011522453.1:c.442G>A XP_011520755.1:p.Val148Met
XM_011522454.1:c.-167-16G>A XP_011520756.1:n.-167-16G>A
NM_021646.3:c.442G>A NP_067678.1:p.Val148Met
XM_005255243.4:c.91G>A XP_005255300.1:p.Val31Met
XM_011522453.2:c.442G>A XP_011520755.1:p.Val148Met
XM_011522454.3:c.-167-16G>A XP_011520756.1:n.-167-16G>A
XM_017023121.2:c.-183G>A XP_016878610.1:n.-183G>A
NM_001303450.2:c.442G>A NP_001290379.1:p.Val148Met
NM_021646.4:c.442G>A MANE Select NP_067678.1:p.Val148Met