Canonical Allele Identifier: CA394620239

Gene: ZNF500

Linked Data

• MyVariant Identifiers: chr16:g.4812288A>C (hg19) ; chr16:g.4762287A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762287A>C , CM000678.2:g.4762287A>C	GRCh38
NC_000016.9:g.4812288A>C , CM000678.1:g.4812288A>C	GRCh37
NC_000016.8:g.4752289A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219478.11:c.647T>G MANE Select	ENSP00000219478.5:p.Leu216Arg
ENST00000219478.10:c.647T>G	ENSP00000219478.5:p.Leu216Arg
ENST00000545009.1:c.647T>G	ENSP00000445714.1:p.Leu216Arg
ENST00000589422.1:c.*175T>G	ENSP00000466375.1:n.*175T>G
NM_001303450.1:c.647T>G	NP_001290379.1:p.Leu216Arg
NM_021646.2:c.647T>G	NP_067678.1:p.Leu216Arg
XM_005255243.2:c.296T>G	XP_005255300.1:p.Leu99Arg
XM_011522453.1:c.647T>G	XP_011520755.1:p.Leu216Arg
XM_011522454.1:c.23T>G	XP_011520756.1:p.Leu8Arg
NM_021646.3:c.647T>G	NP_067678.1:p.Leu216Arg
XM_005255243.4:c.296T>G	XP_005255300.1:p.Leu99Arg
XM_011522453.2:c.647T>G	XP_011520755.1:p.Leu216Arg
XM_011522454.3:c.23T>G	XP_011520756.1:p.Leu8Arg
XM_017023121.2:c.23T>G	XP_016878610.1:p.Leu8Arg
NM_001303450.2:c.647T>G	NP_001290379.1:p.Leu216Arg
NM_021646.4:c.647T>G MANE Select	NP_067678.1:p.Leu216Arg