Canonical Allele Identifier: CA4961655

Gene: DMRT1

Linked Data

• ClinVar Variation Id: 2291072
• ClinVar RCV Id: RCV003561113 ; RCV004142080
• dbSNP Id: rs146893441
• ExAC: 9:894166 G / A
• gnomAD v2: 9-894166-G-A
• gnomAD v3: 9-894166-G-A
• gnomAD v4: 9-894166-G-A
• MyVariant Identifiers: chr9:g.894166G>A (hg19) ; chr9:g.894166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.894166G>A , CM000671.2:g.894166G>A	GRCh38
NC_000009.11:g.894166G>A , CM000671.1:g.894166G>A	GRCh37
NC_000009.10:g.884166G>A	NCBI36
NG_009221.1:g.57477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.793G>A MANE Select	ENSP00000371711.3:p.Val265Met
ENST00000382276.7:c.793G>A	ENSP00000371711.3:p.Val265Met
ENST00000564322.1:n.942G>A
ENST00000569227.1:c.319G>A	ENSP00000454701.1:p.Val107Met
NM_021951.2:c.793G>A	NP_068770.2:p.Val265Met
XM_006716732.1:c.793G>A	XP_006716795.1:p.Val265Met
XM_011517770.1:c.841G>A	XP_011516072.1:p.Val281Met
XM_011517771.1:c.841G>A	XP_011516073.1:p.Val281Met
XM_011517772.1:c.841G>A	XP_011516074.1:p.Val281Met
XM_011517773.1:c.319G>A	XP_011516075.1:p.Val107Met
NM_001363767.1:c.319G>A	NP_001350696.1:p.Val107Met
XM_011517773.3:c.319G>A	XP_011516075.1:p.Val107Met
XM_017014374.1:c.587-22597G>A	XP_016869863.1:n.587-22597G>A
XM_017014375.1:c.539-22597G>A	XP_016869864.1:n.539-22597G>A
XM_024447434.1:c.247G>A	XP_024303202.1:p.Val83Met
NM_021951.3:c.793G>A MANE Select	NP_068770.2:p.Val265Met