Canonical Allele Identifier: CA4961446

Gene: DMRT1

Linked Data

• ClinVar Variation Id: 2467514
• ClinVar RCV Id: RCV004258787
• dbSNP Id: rs761280548
• ExAC: 9:841959 G / A
• gnomAD v2: 9-841959-G-A
• gnomAD v3: 9-841959-G-A
• gnomAD v4: 9-841959-G-A
• MyVariant Identifiers: chr9:g.841959G>A (hg19) ; chr9:g.841959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.841959G>A , CM000671.2:g.841959G>A	GRCh38
NC_000009.11:g.841959G>A , CM000671.1:g.841959G>A	GRCh37
NC_000009.10:g.831959G>A	NCBI36
NG_009221.1:g.5270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.121G>A MANE Select	ENSP00000371711.3:p.Ala41Thr
ENST00000382276.7:c.121G>A	ENSP00000371711.3:p.Ala41Thr
ENST00000564322.1:n.270G>A
NM_021951.2:c.121G>A	NP_068770.2:p.Ala41Thr
XM_006716732.1:c.121G>A	XP_006716795.1:p.Ala41Thr
XM_017014375.1:c.121G>A	XP_016869864.1:p.Ala41Thr
NM_021951.3:c.121G>A MANE Select	NP_068770.2:p.Ala41Thr