Canonical Allele Identifier: CA493316229
Gene: ZNF500 HGNC NCBI

Linked Data

gnomAD v4: 16-4762747-G-A
MyVariant Identifiers: chr16:g.4812748G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4762747G>A , CM000678.2:g.4762747G>A GRCh38
NC_000016.9:g.4812748G>A , CM000678.1:g.4812748G>A GRCh37
NC_000016.8:g.4752749G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219478.11:c.424C>T MANE Select ENSP00000219478.5:p.Leu142=
ENST00000219478.10:c.424C>T ENSP00000219478.5:p.Leu142=
ENST00000545009.1:c.424C>T ENSP00000445714.1:p.Leu142=
ENST00000589422.1:c.415-34C>T ENSP00000466375.1:n.415-34C>T
NM_001303450.1:c.424C>T NP_001290379.1:p.Leu142=
NM_021646.2:c.424C>T NP_067678.1:p.Leu142=
XM_005255243.2:c.73C>T XP_005255300.1:p.Leu25=
XM_011522453.1:c.424C>T XP_011520755.1:p.Leu142=
XM_011522454.1:c.-167-34C>T XP_011520756.1:n.-167-34C>T
NM_021646.3:c.424C>T NP_067678.1:p.Leu142=
XM_005255243.4:c.73C>T XP_005255300.1:p.Leu25=
XM_011522453.2:c.424C>T XP_011520755.1:p.Leu142=
XM_011522454.3:c.-167-34C>T XP_011520756.1:n.-167-34C>T
XM_017023121.2:c.-201C>T XP_016878610.1:n.-201C>T
NM_001303450.2:c.424C>T NP_001290379.1:p.Leu142=
NM_021646.4:c.424C>T MANE Select NP_067678.1:p.Leu142=