Canonical Allele Identifier: CA251354

Gene: ZNF513

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27378156A>G , CM000664.2:g.27378156A>G	GRCh38
NC_000002.11:g.27601023A>G , CM000664.1:g.27601023A>G	GRCh37
NC_000002.10:g.27454527A>G	NCBI36
NG_028219.1:g.7589T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144631.6:c.1015T>C MANE Select	NP_653232.3:p.Cys339Arg
ENST00000323703.11:c.1015T>C MANE Select	ENSP00000318373.6:p.Cys339Arg
NM_001201459.1:c.829T>C	NP_001188388.1:p.Cys277Arg
NM_001201459.2:c.829T>C	NP_001188388.1:p.Cys277Arg
NM_144631.5:c.1015T>C	NP_653232.3:p.Cys339Arg
ENST00000323703.10:c.1015T>C	ENSP00000318373.6:p.Cys339Arg
ENST00000407879.1:c.829T>C	ENSP00000384874.1:p.Cys277Arg
ENST00000491924.1:n.260-126T>C
XM_005264142.1:c.829T>C	XP_005264199.1:p.Cys277Arg
XM_005264142.2:c.829T>C	XP_005264199.1:p.Cys277Arg
XM_005264143.2:c.511T>C	XP_005264200.1:p.Cys171Arg
XM_005264143.3:c.511T>C	XP_005264200.1:p.Cys171Arg