Canonical Allele Identifier: CA4596130

Gene: ZNF596

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.245470C>G , CM000670.2:g.245470C>G	GRCh38
NC_000008.10:g.195470C>G , CM000670.1:g.195470C>G	GRCh37
NC_000008.9:g.185470C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042416.3:c.623C>G MANE Select	NP_001035881.1:p.Ser208Cys
ENST00000398612.3:c.623C>G MANE Select	ENSP00000381613.1:p.Ser208Cys
NM_001042415.2:c.623C>G	NP_001035880.1:p.Ser208Cys
NM_001042415.3:c.623C>G	NP_001035880.1:p.Ser208Cys
NM_001042416.2:c.623C>G	NP_001035881.1:p.Ser208Cys
NM_001287254.1:c.623C>G	NP_001274183.1:p.Ser208Cys
NM_001287254.2:c.623C>G	NP_001274183.1:p.Ser208Cys
NM_001287255.1:c.623C>G	NP_001274184.1:p.Ser208Cys
NM_001287256.1:c.623C>G	NP_001274185.1:p.Ser208Cys
NM_001287399.1:c.224C>G	NP_001274328.1:p.Ser75Cys
NM_173539.3:c.623C>G	NP_775810.2:p.Ser208Cys
ENST00000308811.8:c.623C>G	ENSP00000310033.4:p.Ser208Cys
ENST00000320552.6:c.623C>G	ENSP00000318719.3:p.Ser208Cys
ENST00000398612.2:c.623C>G	ENSP00000381613.1:p.Ser208Cys
ENST00000523162.5:c.*442C>G	ENSP00000430650.1:n.*442C>G
ENST00000640035.1:c.417+206C>G	ENSP00000491031.1:n.417+206C>G
XM_011534742.1:c.623C>G	XP_011533044.1:p.Ser208Cys
XM_011534743.1:c.518C>G	XP_011533045.1:p.Ser173Cys
XM_011534744.1:c.518C>G	XP_011533046.1:p.Ser173Cys
XM_017013166.1:c.623C>G	XP_016868655.1:p.Ser208Cys