Canonical Allele Identifier: CA4961664

Gene: DMRT1

Linked Data

• dbSNP Id: rs139354704
• ExAC: 9:894180 A / G
• gnomAD v2: 9-894180-A-G
• gnomAD v3: 9-894180-A-G
• gnomAD v4: 9-894180-A-G
• MyVariant Identifiers: chr9:g.894180A>G (hg19) ; chr9:g.894180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.894180A>G , CM000671.2:g.894180A>G	GRCh38
NC_000009.11:g.894180A>G , CM000671.1:g.894180A>G	GRCh37
NC_000009.10:g.884180A>G	NCBI36
NG_009221.1:g.57491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.807A>G MANE Select	ENSP00000371711.3:p.Thr269=
ENST00000382276.7:c.807A>G	ENSP00000371711.3:p.Thr269=
ENST00000564322.1:n.956A>G
ENST00000569227.1:c.333A>G	ENSP00000454701.1:p.Thr111=
NM_021951.2:c.807A>G	NP_068770.2:p.Thr269=
XM_006716732.1:c.807A>G	XP_006716795.1:p.Thr269=
XM_011517770.1:c.855A>G	XP_011516072.1:p.Thr285=
XM_011517771.1:c.855A>G	XP_011516073.1:p.Thr285=
XM_011517772.1:c.855A>G	XP_011516074.1:p.Thr285=
XM_011517773.1:c.333A>G	XP_011516075.1:p.Thr111=
NM_001363767.1:c.333A>G	NP_001350696.1:p.Thr111=
XM_011517773.3:c.333A>G	XP_011516075.1:p.Thr111=
XM_017014374.1:c.587-22583A>G	XP_016869863.1:n.587-22583A>G
XM_017014375.1:c.539-22583A>G	XP_016869864.1:n.539-22583A>G
XM_024447434.1:c.261A>G	XP_024303202.1:p.Thr87=
NM_021951.3:c.807A>G MANE Select	NP_068770.2:p.Thr269=