Canonical Allele Identifier: CA7560829
Community Standard Title: NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp)
Gene: DMXL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51449081C>T , CM000677.2:g.51449081C>T GRCh38
NC_000015.9:g.51741278C>T , CM000677.1:g.51741278C>T GRCh37
NC_000015.8:g.49528570C>T NCBI36
NG_017155.1:g.178690G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378457.1:c.9080G>A MANE Select NP_001365386.1:p.Gly3027Asp
ENST00000560891.6:c.9080G>A MANE Select ENSP00000453267.2:p.Gly3027Asp
NM_001174116.1:c.9017G>A NP_001167587.1:p.Gly3006Asp
NM_001174116.2:c.9017G>A NP_001167587.1:p.Gly3006Asp
NM_001174116.3:c.9017G>A NP_001167587.1:p.Gly3006Asp
NM_001174117.1:c.7106G>A NP_001167588.1:p.Gly2369Asp
NM_001174117.2:c.7106G>A NP_001167588.1:p.Gly2369Asp
NM_001174117.3:c.7106G>A NP_001167588.1:p.Gly2369Asp
NM_001378458.1:c.9077G>A NP_001365387.1:p.Gly3026Asp
NM_001378459.1:c.8792G>A NP_001365388.1:p.Gly2931Asp
NM_001378460.1:c.6995G>A NP_001365389.1:p.Gly2332Asp
NM_015263.3:c.9014G>A NP_056078.2:p.Gly3005Asp
NM_015263.4:c.9014G>A NP_056078.2:p.Gly3005Asp
NM_015263.5:c.9014G>A NP_056078.2:p.Gly3005Asp
NR_165648.1:n.9158G>A
NR_165649.1:n.8986G>A
ENST00000251076.9:c.9014G>A ENSP00000251076.5:p.Gly3005Asp
ENST00000449909.7:c.7106G>A ENSP00000400855.3:p.Gly2369Asp
ENST00000543779.6:c.9017G>A ENSP00000441858.2:p.Gly3006Asp
ENST00000559769.1:n.658G>A
ENST00000560891.5:c.3454G>A
XM_005254255.1:c.9080G>A XP_005254312.1:p.Gly3027Asp
XM_005254256.1:c.9077G>A XP_005254313.1:p.Gly3026Asp
XM_017022034.1:c.9026G>A XP_016877523.1:p.Gly3009Asp
XR_001751173.1:n.9160G>A
XR_001751174.1:n.9082G>A
XR_001751175.1:n.9103G>A
XR_001751176.1:n.8880G>A
XR_001751177.1:n.9166G>A
XR_931779.1:n.9315G>A
XR_931779.2:n.9315G>A
XR_931780.1:n.9223G>A
XR_931780.2:n.9223G>A
XR_931781.1:n.9145G>A
XR_931781.2:n.9145G>A