Canonical Allele Identifier: CA394620489

Gene: ZNF500

Linked Data

• MyVariant Identifiers: chr16:g.4812618A>C (hg19) ; chr16:g.4762617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4762617A>C , CM000678.2:g.4762617A>C	GRCh38
NC_000016.9:g.4812618A>C , CM000678.1:g.4812618A>C	GRCh37
NC_000016.8:g.4752619A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000219478.11:c.554T>G MANE Select	ENSP00000219478.5:p.Leu185Arg
ENST00000219478.10:c.554T>G	ENSP00000219478.5:p.Leu185Arg
ENST00000545009.1:c.554T>G	ENSP00000445714.1:p.Leu185Arg
ENST00000589422.1:c.*82T>G	ENSP00000466375.1:n.*82T>G
NM_001303450.1:c.554T>G	NP_001290379.1:p.Leu185Arg
NM_021646.2:c.554T>G	NP_067678.1:p.Leu185Arg
XM_005255243.2:c.203T>G	XP_005255300.1:p.Leu68Arg
XM_011522453.1:c.554T>G	XP_011520755.1:p.Leu185Arg
XM_011522454.1:c.-71T>G	XP_011520756.1:n.-71T>G
NM_021646.3:c.554T>G	NP_067678.1:p.Leu185Arg
XM_005255243.4:c.203T>G	XP_005255300.1:p.Leu68Arg
XM_011522453.2:c.554T>G	XP_011520755.1:p.Leu185Arg
XM_011522454.3:c.-71T>G	XP_011520756.1:n.-71T>G
XM_017023121.2:c.-71T>G	XP_016878610.1:n.-71T>G
NM_001303450.2:c.554T>G	NP_001290379.1:p.Leu185Arg
NM_021646.4:c.554T>G MANE Select	NP_067678.1:p.Leu185Arg