Canonical Allele Identifier: CA7881455
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs371050461
gnomAD v2: 16-4812582-G-A
gnomAD v3: 16-4762581-G-A
gnomAD v4: 16-4762581-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762581G>A , CM000678.2:g.4762581G>A GRCh38
NC_000016.9:g.4812582G>A , CM000678.1:g.4812582G>A GRCh37
NC_000016.8:g.4752583G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.590C>T MANE Select ENSP00000219478.5:p.Pro197Leu
ENST00000219478.10:c.590C>T ENSP00000219478.5:p.Pro197Leu
ENST00000545009.1:c.590C>T ENSP00000445714.1:p.Pro197Leu
ENST00000589422.1:c.*118C>T ENSP00000466375.1:n.*118C>T
NM_001303450.1:c.590C>T NP_001290379.1:p.Pro197Leu
NM_021646.2:c.590C>T NP_067678.1:p.Pro197Leu
XM_005255243.2:c.239C>T XP_005255300.1:p.Pro80Leu
XM_011522453.1:c.590C>T XP_011520755.1:p.Pro197Leu
XM_011522454.1:c.-35C>T XP_011520756.1:n.-35C>T
NM_021646.3:c.590C>T NP_067678.1:p.Pro197Leu
XM_005255243.4:c.239C>T XP_005255300.1:p.Pro80Leu
XM_011522453.2:c.590C>T XP_011520755.1:p.Pro197Leu
XM_011522454.3:c.-35C>T XP_011520756.1:n.-35C>T
XM_017023121.2:c.-35C>T XP_016878610.1:n.-35C>T
NM_001303450.2:c.590C>T NP_001290379.1:p.Pro197Leu
NM_021646.4:c.590C>T MANE Select NP_067678.1:p.Pro197Leu