Canonical Allele Identifier: CA392429962

Gene: DMXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51450302G>T , CM000677.2:g.51450302G>T	GRCh38
NC_000015.9:g.51742499G>T , CM000677.1:g.51742499G>T	GRCh37
NC_000015.8:g.49529791G>T	NCBI36
NG_017155.1:g.177469C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378457.1:c.8794C>A MANE Select	NP_001365386.1:p.Pro2932Thr
ENST00000560891.6:c.8794C>A MANE Select	ENSP00000453267.2:p.Pro2932Thr
NM_001174116.1:c.8731C>A	NP_001167587.1:p.Pro2911Thr
NM_001174116.2:c.8731C>A	NP_001167587.1:p.Pro2911Thr
NM_001174116.3:c.8731C>A	NP_001167587.1:p.Pro2911Thr
NM_001174117.1:c.6820C>A	NP_001167588.1:p.Pro2274Thr
NM_001174117.2:c.6820C>A	NP_001167588.1:p.Pro2274Thr
NM_001174117.3:c.6820C>A	NP_001167588.1:p.Pro2274Thr
NM_001378458.1:c.8791C>A	NP_001365387.1:p.Pro2931Thr
NM_001378459.1:c.8506C>A	NP_001365388.1:p.Pro2836Thr
NM_001378460.1:c.6709C>A	NP_001365389.1:p.Pro2237Thr
NM_015263.3:c.8728C>A	NP_056078.2:p.Pro2910Thr
NM_015263.4:c.8728C>A	NP_056078.2:p.Pro2910Thr
NM_015263.5:c.8728C>A	NP_056078.2:p.Pro2910Thr
NR_165648.1:n.8872C>A
NR_165649.1:n.8700C>A
ENST00000251076.9:c.8728C>A	ENSP00000251076.5:p.Pro2910Thr
ENST00000449909.7:c.6820C>A	ENSP00000400855.3:p.Pro2274Thr
ENST00000543779.6:c.8731C>A	ENSP00000441858.2:p.Pro2911Thr
ENST00000559059.1:c.200C>A	ENSP00000453570.1:p.Thr67Asn
ENST00000559769.1:n.372C>A
ENST00000560891.5:c.3168C>A
XM_005254255.1:c.8794C>A	XP_005254312.1:p.Pro2932Thr
XM_005254256.1:c.8791C>A	XP_005254313.1:p.Pro2931Thr
XM_017022034.1:c.8740C>A	XP_016877523.1:p.Pro2914Thr
XR_001751173.1:n.8874C>A
XR_001751174.1:n.8796C>A
XR_001751175.1:n.8817C>A
XR_001751176.1:n.8594C>A
XR_001751177.1:n.8880C>A
XR_931779.1:n.9029C>A
XR_931779.2:n.9029C>A
XR_931780.1:n.8937C>A
XR_931780.2:n.8937C>A
XR_931781.1:n.8859C>A
XR_931781.2:n.8859C>A