Canonical Allele Identifier: CA1578065

Gene: ZNF513

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27378871C>G , CM000664.2:g.27378871C>G	GRCh38
NC_000002.11:g.27601738C>G , CM000664.1:g.27601738C>G	GRCh37
NC_000002.10:g.27455242C>G	NCBI36
NG_028219.1:g.6874G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144631.6:c.395G>C MANE Select	NP_653232.3:p.Cys132Ser
ENST00000323703.11:c.395G>C MANE Select	ENSP00000318373.6:p.Cys132Ser
NM_001201459.1:c.209G>C	NP_001188388.1:p.Cys70Ser
NM_001201459.2:c.209G>C	NP_001188388.1:p.Cys70Ser
NM_144631.5:c.395G>C	NP_653232.3:p.Cys132Ser
ENST00000323703.10:c.395G>C	ENSP00000318373.6:p.Cys132Ser
ENST00000407879.1:c.209G>C	ENSP00000384874.1:p.Cys70Ser
ENST00000436006.1:c.209G>C	ENSP00000394226.1:p.Cys70Ser
ENST00000491924.1:n.110+13G>C
XM_005264142.1:c.209G>C	XP_005264199.1:p.Cys70Ser
XM_005264142.2:c.209G>C	XP_005264199.1:p.Cys70Ser
XM_005264143.2:c.-17+13G>C	XP_005264200.1:n.-17+13G>C
XM_005264143.3:c.-17+13G>C	XP_005264200.1:n.-17+13G>C