Canonical Allele Identifier: CA14195165

Gene: DMXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51448859G>A , CM000677.2:g.51448859G>A	GRCh38
NC_000015.9:g.51741056G>A , CM000677.1:g.51741056G>A	GRCh37
NC_000015.8:g.49528348G>A	NCBI36
NG_017155.1:g.178912C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378457.1:c.*125C>T MANE Select	NP_001365386.1:n.*125C>T
ENST00000560891.6:c.*125C>T MANE Select	ENSP00000453267.2:n.*125C>T
NM_001174116.1:c.*125C>T	NP_001167587.1:n.*125C>T
NM_001174116.2:c.*125C>T	NP_001167587.1:n.*125C>T
NM_001174116.3:c.*125C>T	NP_001167587.1:n.*125C>T
NM_001174117.1:c.*125C>T	NP_001167588.1:n.*125C>T
NM_001174117.2:c.*125C>T	NP_001167588.1:n.*125C>T
NM_001174117.3:c.*125C>T	NP_001167588.1:n.*125C>T
NM_001378458.1:c.*125C>T	NP_001365387.1:n.*125C>T
NM_001378459.1:c.*125C>T	NP_001365388.1:n.*125C>T
NM_001378460.1:c.*125C>T	NP_001365389.1:n.*125C>T
NM_015263.3:c.*125C>T	NP_056078.2:n.*125C>T
NM_015263.4:c.*125C>T	NP_056078.2:n.*125C>T
NM_015263.5:c.*125C>T	NP_056078.2:n.*125C>T
NR_165648.1:n.9380C>T
NR_165649.1:n.9208C>T
ENST00000251076.9:c.*125C>T	ENSP00000251076.5:n.*125C>T
ENST00000449909.7:c.*125C>T	ENSP00000400855.3:n.*125C>T
ENST00000543779.6:c.*125C>T	ENSP00000441858.2:n.*125C>T
ENST00000559769.1:n.880C>T
ENST00000560891.5:c.3676C>T
XM_005254255.1:c.*125C>T	XP_005254312.1:n.*125C>T
XM_005254256.1:c.*125C>T	XP_005254313.1:n.*125C>T
XM_017022034.1:c.*125C>T	XP_016877523.1:n.*125C>T
XR_001751173.1:n.9382C>T
XR_001751174.1:n.9304C>T
XR_001751175.1:n.9325C>T
XR_001751176.1:n.9102C>T
XR_001751177.1:n.9388C>T
XR_931779.1:n.9537C>T
XR_931779.2:n.9537C>T
XR_931780.1:n.9445C>T
XR_931780.2:n.9445C>T
XR_931781.1:n.9367C>T
XR_931781.2:n.9367C>T