Canonical Allele Identifier: CA372776381

Gene: DMRT1

Linked Data

• dbSNP Id: rs1470756619
• gnomAD v4: 9-893944-G-A
• MyVariant Identifiers: chr9:g.893944G>A (hg19) ; chr9:g.893944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.893944G>A , CM000671.2:g.893944G>A	GRCh38
NC_000009.11:g.893944G>A , CM000671.1:g.893944G>A	GRCh37
NC_000009.10:g.883944G>A	NCBI36
NG_009221.1:g.57255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382276.8:c.571G>A MANE Select	ENSP00000371711.3:p.Val191Ile
ENST00000382276.7:c.571G>A	ENSP00000371711.3:p.Val191Ile
ENST00000564322.1:n.720G>A
ENST00000569227.1:c.97G>A	ENSP00000454701.1:p.Val33Ile
NM_021951.2:c.571G>A	NP_068770.2:p.Val191Ile
XM_006716732.1:c.571G>A	XP_006716795.1:p.Val191Ile
XM_011517770.1:c.619G>A	XP_011516072.1:p.Val207Ile
XM_011517771.1:c.619G>A	XP_011516073.1:p.Val207Ile
XM_011517772.1:c.619G>A	XP_011516074.1:p.Val207Ile
XM_011517773.1:c.97G>A	XP_011516075.1:p.Val33Ile
NM_001363767.1:c.97G>A	NP_001350696.1:p.Val33Ile
XM_011517773.3:c.97G>A	XP_011516075.1:p.Val33Ile
XM_017014374.1:c.587-22819G>A	XP_016869863.1:n.587-22819G>A
XM_017014375.1:c.539-22819G>A	XP_016869864.1:n.539-22819G>A
XM_024447434.1:c.25G>A	XP_024303202.1:p.Val9Ile
NM_021951.3:c.571G>A MANE Select	NP_068770.2:p.Val191Ile