Canonical Allele Identifier: CA1577915

Gene: ZNF513

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27378293C>T , CM000664.2:g.27378293C>T	GRCh38
NC_000002.11:g.27601160C>T , CM000664.1:g.27601160C>T	GRCh37
NC_000002.10:g.27454664C>T	NCBI36
NG_028219.1:g.7452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144631.6:c.878G>A MANE Select	NP_653232.3:p.Arg293Gln
ENST00000323703.11:c.878G>A MANE Select	ENSP00000318373.6:p.Arg293Gln
NM_001201459.1:c.692G>A	NP_001188388.1:p.Arg231Gln
NM_001201459.2:c.692G>A	NP_001188388.1:p.Arg231Gln
NM_144631.5:c.878G>A	NP_653232.3:p.Arg293Gln
ENST00000323703.10:c.878G>A	ENSP00000318373.6:p.Arg293Gln
ENST00000407879.1:c.692G>A	ENSP00000384874.1:p.Arg231Gln
ENST00000491924.1:n.259+174G>A
XM_005264142.1:c.692G>A	XP_005264199.1:p.Arg231Gln
XM_005264142.2:c.692G>A	XP_005264199.1:p.Arg231Gln
XM_005264143.2:c.374G>A	XP_005264200.1:p.Arg125Gln
XM_005264143.3:c.374G>A	XP_005264200.1:p.Arg125Gln