Canonical Allele Identifier: CA1577794
Community Standard Title: NM_144631.6(ZNF513):c.1488C>T (p.His496=)
Gene: ZNF513 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27377683G>A , CM000664.2:g.27377683G>A GRCh38
NC_000002.11:g.27600550G>A , CM000664.1:g.27600550G>A GRCh37
NC_000002.10:g.27454054G>A NCBI36
NG_028219.1:g.8062C>T

Transcript Alleles

HGVS Amino-acid Change
NM_144631.6:c.1488C>T MANE Select NP_653232.3:p.His496=
ENST00000323703.11:c.1488C>T MANE Select ENSP00000318373.6:p.His496=
NM_001201459.1:c.1302C>T NP_001188388.1:p.His434=
NM_001201459.2:c.1302C>T NP_001188388.1:p.His434=
NM_144631.5:c.1488C>T NP_653232.3:p.His496=
ENST00000323703.10:c.1488C>T ENSP00000318373.6:p.His496=
ENST00000407879.1:c.1302C>T ENSP00000384874.1:p.His434=
XM_005264142.1:c.1302C>T XP_005264199.1:p.His434=
XM_005264142.2:c.1302C>T XP_005264199.1:p.His434=
XM_005264143.2:c.984C>T XP_005264200.1:p.His328=
XM_005264143.3:c.984C>T XP_005264200.1:p.His328=