Canonical Allele Identifier: CA562460226

Gene: DMXL1

Linked Data

• dbSNP Id: rs1223147072
• gnomAD v2: 5-118435068-G-A
• gnomAD v3: 5-119099373-G-A
• gnomAD v4: 5-119099373-G-A
• MyVariant Identifiers: chr5:g.118435068G>A (hg19) ; chr5:g.119099373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119099373G>A , CM000667.2:g.119099373G>A	GRCh38
NC_000005.9:g.118435068G>A , CM000667.1:g.118435068G>A	GRCh37
NC_000005.8:g.118462967G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000539542.6:c.213+1269G>A MANE Select	ENSP00000439479.1:n.213+1269G>A
ENST00000311085.8:c.213+1269G>A	ENSP00000309690.8:n.213+1269G>A
ENST00000503802.5:c.213+1269G>A	ENSP00000427692.1:n.213+1269G>A
ENST00000509902.5:n.352+1269G>A
ENST00000510924.1:n.378+1269G>A
ENST00000539542.5:c.213+1269G>A	ENSP00000439479.1:n.213+1269G>A
NM_001290321.2:c.213+1269G>A	NP_001277250.1:n.213+1269G>A
NM_001290322.2:c.-346G>A	NP_001277251.1:n.-346G>A
NM_005509.5:c.213+1269G>A	NP_005500.4:n.213+1269G>A
XM_005271909.3:c.213+1269G>A	XP_005271966.1:n.213+1269G>A
XM_005271910.3:c.213+1269G>A	XP_005271967.1:n.213+1269G>A
XM_005271912.1:c.15+1269G>A	XP_005271969.1:n.15+1269G>A
XM_011543212.1:c.213+1269G>A	XP_011541514.1:n.213+1269G>A
XM_011543213.1:c.213+1269G>A	XP_011541515.1:n.213+1269G>A
XR_948239.1:n.436+1269G>A
NM_001349239.1:c.213+1269G>A	NP_001336168.1:n.213+1269G>A
NM_001349240.1:c.213+1269G>A	NP_001336169.1:n.213+1269G>A
XM_005271909.4:c.213+1269G>A	XP_005271966.1:n.213+1269G>A
XM_005271910.5:c.213+1269G>A	XP_005271967.1:n.213+1269G>A
XM_005271912.2:c.15+1269G>A	XP_005271969.1:n.15+1269G>A
XM_011543212.2:c.213+1269G>A	XP_011541514.1:n.213+1269G>A
XM_011543213.2:c.213+1269G>A	XP_011541515.1:n.213+1269G>A
XM_017009143.1:c.15+1269G>A	XP_016864632.1:n.15+1269G>A
XM_017009144.1:c.15+1269G>A	XP_016864633.1:n.15+1269G>A
XM_017009145.1:c.15+1269G>A	XP_016864634.1:n.15+1269G>A
XM_017009146.1:c.-38G>A	XP_016864635.1:n.-38G>A
XM_017009147.1:c.213+1269G>A	XP_016864636.1:n.213+1269G>A
XM_017009148.1:c.-174+1269G>A	XP_016864637.1:n.-174+1269G>A
XR_001742026.2:n.739+1269G>A
XR_001742027.2:n.739+1269G>A
XR_948239.2:n.739+1269G>A
NM_001290322.3:c.-346G>A	NP_001277251.1:n.-346G>A
NM_001349239.2:c.213+1269G>A	NP_001336168.1:n.213+1269G>A
NM_005509.6:c.213+1269G>A	NP_005500.4:n.213+1269G>A
NM_001290321.3:c.213+1269G>A MANE Select	NP_001277250.1:n.213+1269G>A
NM_001349240.2:c.213+1269G>A	NP_001336169.1:n.213+1269G>A
NM_001387933.1:c.213+1269G>A	NP_001374862.1:n.213+1269G>A
NM_001387934.1:c.213+1269G>A	NP_001374863.1:n.213+1269G>A
NM_001387937.1:c.213+1269G>A	NP_001374866.1:n.213+1269G>A
NM_001387938.1:c.213+1269G>A	NP_001374867.1:n.213+1269G>A
NR_170867.1:n.696+1269G>A
NR_170868.1:n.696+1269G>A
NR_170869.1:n.1965G>A