Canonical Allele Identifier: CA361097473
Community Standard Title: NM_016604.4(KDM3B):c.5097A>C (p.Lys1699Asn)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138431451A>C , CM000667.2:g.138431451A>C GRCh38
NC_000005.9:g.137767140A>C , CM000667.1:g.137767140A>C GRCh37
NC_000005.8:g.137795039A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.5097A>C MANE Select NP_057688.3:p.Lys1699Asn
ENST00000314358.10:c.5097A>C MANE Select ENSP00000326563.5:p.Lys1699Asn
NM_016604.3:c.5097A>C NP_057688.2:p.Lys1699Asn
ENST00000314358.9:c.5097A>C ENSP00000326563.5:p.Lys1699Asn
ENST00000507996.5:c.2513A>C ENSP00000423012.1:n.2513A>C
ENST00000510866.5:c.4807A>C ENSP00000425186.1:n.4807A>C
ENST00000542866.2:c.2091A>C ENSP00000439462.2:p.Lys697Asn
XM_005272018.3:c.4497A>C XP_005272075.1:p.Lys1499Asn
XM_005272018.4:c.4497A>C XP_005272075.1:p.Lys1499Asn
XM_011543488.1:c.4965A>C XP_011541790.1:p.Lys1655Asn
XM_011543488.2:c.4965A>C XP_011541790.1:p.Lys1655Asn
XM_011543489.1:c.4953A>C XP_011541791.1:p.Lys1651Asn
XM_011543489.2:c.4953A>C XP_011541791.1:p.Lys1651Asn
XM_017009584.1:c.4350A>C XP_016865073.1:p.Lys1450Asn
XM_024446115.1:c.4623A>C XP_024301883.1:p.Lys1541Asn