Canonical Allele Identifier: CA1578036

Gene: ZNF513

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27378729G>A , CM000664.2:g.27378729G>A	GRCh38
NC_000002.11:g.27601596G>A , CM000664.1:g.27601596G>A	GRCh37
NC_000002.10:g.27455100G>A	NCBI36
NG_028219.1:g.7016C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144631.6:c.537C>T MANE Select	NP_653232.3:p.Arg179=
ENST00000323703.11:c.537C>T MANE Select	ENSP00000318373.6:p.Arg179=
NM_001201459.1:c.351C>T	NP_001188388.1:p.Arg117=
NM_001201459.2:c.351C>T	NP_001188388.1:p.Arg117=
NM_144631.5:c.537C>T	NP_653232.3:p.Arg179=
ENST00000323703.10:c.537C>T	ENSP00000318373.6:p.Arg179=
ENST00000407879.1:c.351C>T	ENSP00000384874.1:p.Arg117=
ENST00000491924.1:n.111-114C>T
XM_005264142.1:c.351C>T	XP_005264199.1:p.Arg117=
XM_005264142.2:c.351C>T	XP_005264199.1:p.Arg117=
XM_005264143.2:c.33C>T	XP_005264200.1:p.Arg11=
XM_005264143.3:c.33C>T	XP_005264200.1:p.Arg11=