Canonical Allele Identifier: CA4961625

Gene: DMRT1

Linked Data

• dbSNP Id: rs745925482
• ExAC: 9:894066 C / T
• gnomAD v2: 9-894066-C-T
• gnomAD v3: 9-894066-C-T
• gnomAD v4: 9-894066-C-T
• MyVariant Identifiers: chr9:g.894066C>T (hg19) ; chr9:g.894066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.894066C>T , CM000671.2:g.894066C>T	GRCh38
NC_000009.11:g.894066C>T , CM000671.1:g.894066C>T	GRCh37
NC_000009.10:g.884066C>T	NCBI36
NG_009221.1:g.57377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.693C>T MANE Select	ENSP00000371711.3:p.Tyr231=
ENST00000382276.7:c.693C>T	ENSP00000371711.3:p.Tyr231=
ENST00000564322.1:n.842C>T
ENST00000569227.1:c.219C>T	ENSP00000454701.1:p.Tyr73=
NM_021951.2:c.693C>T	NP_068770.2:p.Tyr231=
XM_006716732.1:c.693C>T	XP_006716795.1:p.Tyr231=
XM_011517770.1:c.741C>T	XP_011516072.1:p.Tyr247=
XM_011517771.1:c.741C>T	XP_011516073.1:p.Tyr247=
XM_011517772.1:c.741C>T	XP_011516074.1:p.Tyr247=
XM_011517773.1:c.219C>T	XP_011516075.1:p.Tyr73=
NM_001363767.1:c.219C>T	NP_001350696.1:p.Tyr73=
XM_011517773.3:c.219C>T	XP_011516075.1:p.Tyr73=
XM_017014374.1:c.587-22697C>T	XP_016869863.1:n.587-22697C>T
XM_017014375.1:c.539-22697C>T	XP_016869864.1:n.539-22697C>T
XM_024447434.1:c.147C>T	XP_024303202.1:p.Tyr49=
NM_021951.3:c.693C>T MANE Select	NP_068770.2:p.Tyr231=