Canonical Allele Identifier: CA14118078

Gene: DMXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51455949T>C , CM000677.2:g.51455949T>C	GRCh38
NC_000015.9:g.51748146T>C , CM000677.1:g.51748146T>C	GRCh37
NC_000015.8:g.49535438T>C	NCBI36
NG_017155.1:g.171822A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378457.1:c.8526+117A>G MANE Select	NP_001365386.1:n.8526+117A>G
ENST00000560891.6:c.8526+117A>G MANE Select	ENSP00000453267.2:n.8526+117A>G
NM_001174116.1:c.8463+117A>G	NP_001167587.1:n.8463+117A>G
NM_001174116.2:c.8463+117A>G	NP_001167587.1:n.8463+117A>G
NM_001174116.3:c.8463+117A>G	NP_001167587.1:n.8463+117A>G
NM_001174117.1:c.6552+117A>G	NP_001167588.1:n.6552+117A>G
NM_001174117.2:c.6552+117A>G	NP_001167588.1:n.6552+117A>G
NM_001174117.3:c.6552+117A>G	NP_001167588.1:n.6552+117A>G
NM_001378458.1:c.8523+117A>G	NP_001365387.1:n.8523+117A>G
NM_001378459.1:c.8238+117A>G	NP_001365388.1:n.8238+117A>G
NM_001378460.1:c.6441+117A>G	NP_001365389.1:n.6441+117A>G
NM_015263.3:c.8460+117A>G	NP_056078.2:n.8460+117A>G
NM_015263.4:c.8460+117A>G	NP_056078.2:n.8460+117A>G
NM_015263.5:c.8460+117A>G	NP_056078.2:n.8460+117A>G
NR_165648.1:n.8749+117A>G
NR_165649.1:n.8432+117A>G
ENST00000251076.9:c.8460+117A>G	ENSP00000251076.5:n.8460+117A>G
ENST00000449909.7:c.6552+117A>G	ENSP00000400855.3:n.6552+117A>G
ENST00000543779.6:c.8463+117A>G	ENSP00000441858.2:n.8463+117A>G
ENST00000559868.1:n.138+117A>G
ENST00000560891.5:c.2900+117A>G
XM_005254255.1:c.8526+117A>G	XP_005254312.1:n.8526+117A>G
XM_005254256.1:c.8523+117A>G	XP_005254313.1:n.8523+117A>G
XM_017022034.1:c.8472+117A>G	XP_016877523.1:n.8472+117A>G
XR_001751173.1:n.8751+117A>G
XR_001751174.1:n.8751+117A>G
XR_001751175.1:n.8549+117A>G
XR_001751176.1:n.8549+117A>G
XR_001751177.1:n.8612+117A>G
XR_243084.1:n.8549+117A>G
XR_931779.1:n.8814+117A>G
XR_931779.2:n.8814+117A>G
XR_931780.1:n.8814+117A>G
XR_931780.2:n.8814+117A>G
XR_931781.1:n.8814+117A>G
XR_931781.2:n.8814+117A>G