Canonical Allele Identifier: CA372777120
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs759196366
gnomAD v3: 9-894163-T-G
gnomAD v4: 9-894163-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894163T>G , CM000671.2:g.894163T>G GRCh38
NC_000009.11:g.894163T>G , CM000671.1:g.894163T>G GRCh37
NC_000009.10:g.884163T>G NCBI36
NG_009221.1:g.57474T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.790T>G MANE Select ENSP00000371711.3:p.Tyr264Asp
ENST00000382276.7:c.790T>G ENSP00000371711.3:p.Tyr264Asp
ENST00000564322.1:n.939T>G
ENST00000569227.1:c.316T>G ENSP00000454701.1:p.Tyr106Asp
NM_021951.2:c.790T>G NP_068770.2:p.Tyr264Asp
XM_006716732.1:c.790T>G XP_006716795.1:p.Tyr264Asp
XM_011517770.1:c.838T>G XP_011516072.1:p.Tyr280Asp
XM_011517771.1:c.838T>G XP_011516073.1:p.Tyr280Asp
XM_011517772.1:c.838T>G XP_011516074.1:p.Tyr280Asp
XM_011517773.1:c.316T>G XP_011516075.1:p.Tyr106Asp
NM_001363767.1:c.316T>G NP_001350696.1:p.Tyr106Asp
XM_011517773.3:c.316T>G XP_011516075.1:p.Tyr106Asp
XM_017014374.1:c.587-22600T>G XP_016869863.1:n.587-22600T>G
XM_017014375.1:c.539-22600T>G XP_016869864.1:n.539-22600T>G
XM_024447434.1:c.244T>G XP_024303202.1:p.Tyr82Asp
NM_021951.3:c.790T>G MANE Select NP_068770.2:p.Tyr264Asp