Canonical Allele Identifier: CA7881496
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs199950483
gnomAD v2: 16-4812718-T-C
gnomAD v3: 16-4762717-T-C
gnomAD v4: 16-4762717-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762717T>C , CM000678.2:g.4762717T>C GRCh38
NC_000016.9:g.4812718T>C , CM000678.1:g.4812718T>C GRCh37
NC_000016.8:g.4752719T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000219478.11:c.454A>G MANE Select ENSP00000219478.5:p.Ile152Val
ENST00000219478.10:c.454A>G ENSP00000219478.5:p.Ile152Val
ENST00000545009.1:c.454A>G ENSP00000445714.1:p.Ile152Val
ENST00000589422.1:c.415-4A>G ENSP00000466375.1:n.415-4A>G
NM_001303450.1:c.454A>G NP_001290379.1:p.Ile152Val
NM_021646.2:c.454A>G NP_067678.1:p.Ile152Val
XM_005255243.2:c.103A>G XP_005255300.1:p.Ile35Val
XM_011522453.1:c.454A>G XP_011520755.1:p.Ile152Val
XM_011522454.1:c.-167-4A>G XP_011520756.1:n.-167-4A>G
NM_021646.3:c.454A>G NP_067678.1:p.Ile152Val
XM_005255243.4:c.103A>G XP_005255300.1:p.Ile35Val
XM_011522453.2:c.454A>G XP_011520755.1:p.Ile152Val
XM_011522454.3:c.-167-4A>G XP_011520756.1:n.-167-4A>G
XM_017023121.2:c.-171A>G XP_016878610.1:n.-171A>G
NM_001303450.2:c.454A>G NP_001290379.1:p.Ile152Val
NM_021646.4:c.454A>G MANE Select NP_067678.1:p.Ile152Val