Canonical Allele Identifier: CA394620315
Gene: ZNF500 HGNC NCBI

Linked Data

dbSNP Id: rs776375509
gnomAD v3: 16-4762324-G-T
gnomAD v4: 16-4762324-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762324G>T , CM000678.2:g.4762324G>T GRCh38
NC_000016.9:g.4812325G>T , CM000678.1:g.4812325G>T GRCh37
NC_000016.8:g.4752326G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.610C>A MANE Select ENSP00000219478.5:p.Pro204Thr
ENST00000219478.10:c.610C>A ENSP00000219478.5:p.Pro204Thr
ENST00000545009.1:c.610C>A ENSP00000445714.1:p.Pro204Thr
ENST00000589422.1:c.*138C>A ENSP00000466375.1:n.*138C>A
NM_001303450.1:c.610C>A NP_001290379.1:p.Pro204Thr
NM_021646.2:c.610C>A NP_067678.1:p.Pro204Thr
XM_005255243.2:c.259C>A XP_005255300.1:p.Pro87Thr
XM_011522453.1:c.610C>A XP_011520755.1:p.Pro204Thr
XM_011522454.1:c.-15C>A XP_011520756.1:n.-15C>A
NM_021646.3:c.610C>A NP_067678.1:p.Pro204Thr
XM_005255243.4:c.259C>A XP_005255300.1:p.Pro87Thr
XM_011522453.2:c.610C>A XP_011520755.1:p.Pro204Thr
XM_011522454.3:c.-15C>A XP_011520756.1:n.-15C>A
XM_017023121.2:c.-15C>A XP_016878610.1:n.-15C>A
NM_001303450.2:c.610C>A NP_001290379.1:p.Pro204Thr
NM_021646.4:c.610C>A MANE Select NP_067678.1:p.Pro204Thr