Canonical Allele Identifier: CA357918

Gene: KCTD19

Linked Data

• ClinVar Variation Id: 224816
• ClinVar RCV Id: RCV000210400
• dbSNP Id: rs869312866
• MyVariant Identifiers: chr16:g.67354577G>T (hg19) ; chr16:g.67320674G>T (hg38)
• PubMed: PMID:26350515

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67320674G>T , CM000678.2:g.67320674G>T	GRCh38
NC_000016.9:g.67354577G>T , CM000678.1:g.67354577G>T	GRCh37
NC_000016.8:g.65912078G>T	NCBI36
NG_053040.1:g.11085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304372.6:c.215C>A MANE Select	ENSP00000305702.5:p.Thr72Asn
ENST00000304372.5:c.215C>A	ENSP00000305702.5:p.Thr72Asn
ENST00000561625.1:n.247C>A
ENST00000562721.1:c.*157C>A	ENSP00000462122.1:n.*157C>A
ENST00000562860.1:n.117C>A
ENST00000566295.1:c.200C>A	ENSP00000462732.1:p.Thr67Asn
ENST00000566392.5:n.261C>A
ENST00000567976.1:c.200C>A	ENSP00000458045.1:p.Thr67Asn
ENST00000568736.5:n.268C>A
ENST00000569333.5:n.237C>A
ENST00000570049.5:n.234C>A
NM_001100915.1:c.215C>A	NP_001094385.1:p.Thr72Asn
XM_005255808.3:c.215C>A	XP_005255865.1:p.Thr72Asn
XM_006721143.2:c.200C>A	XP_006721206.1:p.Thr67Asn
XM_011522876.1:c.200C>A	XP_011521178.1:p.Thr67Asn
XM_011522877.1:c.215C>A	XP_011521179.1:p.Thr72Asn
XM_011522878.1:c.-321C>A	XP_011521180.1:n.-321C>A
XM_011522879.1:c.-115C>A	XP_011521181.1:n.-115C>A
XM_011522880.1:c.-970C>A	XP_011521182.1:n.-970C>A
NM_001100915.2:c.215C>A	NP_001094385.1:p.Thr72Asn
NM_001100915.3:c.215C>A MANE Select	NP_001094385.1:p.Thr72Asn