Canonical Allele Identifier: CA372777050

Gene: DMRT1

Linked Data

• dbSNP Id: rs1817260203
• gnomAD v3: 9-894142-C-G
• gnomAD v4: 9-894142-C-G
• MyVariant Identifiers: chr9:g.894142C>G (hg19) ; chr9:g.894142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.894142C>G , CM000671.2:g.894142C>G	GRCh38
NC_000009.11:g.894142C>G , CM000671.1:g.894142C>G	GRCh37
NC_000009.10:g.884142C>G	NCBI36
NG_009221.1:g.57453C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.769C>G MANE Select	ENSP00000371711.3:p.Leu257Val
ENST00000382276.7:c.769C>G	ENSP00000371711.3:p.Leu257Val
ENST00000564322.1:n.918C>G
ENST00000569227.1:c.295C>G	ENSP00000454701.1:p.Leu99Val
NM_021951.2:c.769C>G	NP_068770.2:p.Leu257Val
XM_006716732.1:c.769C>G	XP_006716795.1:p.Leu257Val
XM_011517770.1:c.817C>G	XP_011516072.1:p.Leu273Val
XM_011517771.1:c.817C>G	XP_011516073.1:p.Leu273Val
XM_011517772.1:c.817C>G	XP_011516074.1:p.Leu273Val
XM_011517773.1:c.295C>G	XP_011516075.1:p.Leu99Val
NM_001363767.1:c.295C>G	NP_001350696.1:p.Leu99Val
XM_011517773.3:c.295C>G	XP_011516075.1:p.Leu99Val
XM_017014374.1:c.587-22621C>G	XP_016869863.1:n.587-22621C>G
XM_017014375.1:c.539-22621C>G	XP_016869864.1:n.539-22621C>G
XM_024447434.1:c.223C>G	XP_024303202.1:p.Leu75Val
NM_021951.3:c.769C>G MANE Select	NP_068770.2:p.Leu257Val