Canonical Allele Identifier: CA372776950
Gene: DMRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508828
ClinVar RCV Id: RCV002040523
dbSNP Id: rs1166688024
gnomAD v2: 9-894109-A-G
gnomAD v3: 9-894109-A-G
gnomAD v4: 9-894109-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894109A>G , CM000671.2:g.894109A>G GRCh38
NC_000009.11:g.894109A>G , CM000671.1:g.894109A>G GRCh37
NC_000009.10:g.884109A>G NCBI36
NG_009221.1:g.57420A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.736A>G MANE Select ENSP00000371711.3:p.Asn246Asp
ENST00000382276.7:c.736A>G ENSP00000371711.3:p.Asn246Asp
ENST00000564322.1:n.885A>G
ENST00000569227.1:c.262A>G ENSP00000454701.1:p.Asn88Asp
NM_021951.2:c.736A>G NP_068770.2:p.Asn246Asp
XM_006716732.1:c.736A>G XP_006716795.1:p.Asn246Asp
XM_011517770.1:c.784A>G XP_011516072.1:p.Asn262Asp
XM_011517771.1:c.784A>G XP_011516073.1:p.Asn262Asp
XM_011517772.1:c.784A>G XP_011516074.1:p.Asn262Asp
XM_011517773.1:c.262A>G XP_011516075.1:p.Asn88Asp
NM_001363767.1:c.262A>G NP_001350696.1:p.Asn88Asp
XM_011517773.3:c.262A>G XP_011516075.1:p.Asn88Asp
XM_017014374.1:c.587-22654A>G XP_016869863.1:n.587-22654A>G
XM_017014375.1:c.539-22654A>G XP_016869864.1:n.539-22654A>G
XM_024447434.1:c.190A>G XP_024303202.1:p.Asn64Asp
NM_021951.3:c.736A>G MANE Select NP_068770.2:p.Asn246Asp