Canonical Allele Identifier: CA1577802
Community Standard Title: NM_144631.6(ZNF513):c.1443G>A (p.Thr481=)
Gene: ZNF513 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27377728C>T , CM000664.2:g.27377728C>T GRCh38
NC_000002.11:g.27600595C>T , CM000664.1:g.27600595C>T GRCh37
NC_000002.10:g.27454099C>T NCBI36
NG_028219.1:g.8017G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144631.6:c.1443G>A MANE Select NP_653232.3:p.Thr481=
ENST00000323703.11:c.1443G>A MANE Select ENSP00000318373.6:p.Thr481=
NM_001201459.1:c.1257G>A NP_001188388.1:p.Thr419=
NM_001201459.2:c.1257G>A NP_001188388.1:p.Thr419=
NM_144631.5:c.1443G>A NP_653232.3:p.Thr481=
ENST00000323703.10:c.1443G>A ENSP00000318373.6:p.Thr481=
ENST00000407879.1:c.1257G>A ENSP00000384874.1:p.Thr419=
ENST00000491924.1:n.562G>A
XM_005264142.1:c.1257G>A XP_005264199.1:p.Thr419=
XM_005264142.2:c.1257G>A XP_005264199.1:p.Thr419=
XM_005264143.2:c.939G>A XP_005264200.1:p.Thr313=
XM_005264143.3:c.939G>A XP_005264200.1:p.Thr313=