Canonical Allele Identifier: CA372776976
Gene: DMRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894116T>G , CM000671.2:g.894116T>G GRCh38
NC_000009.11:g.894116T>G , CM000671.1:g.894116T>G GRCh37
NC_000009.10:g.884116T>G NCBI36
NG_009221.1:g.57427T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.743T>G MANE Select ENSP00000371711.3:p.Leu248Arg
ENST00000382276.7:c.743T>G ENSP00000371711.3:p.Leu248Arg
ENST00000564322.1:n.892T>G
ENST00000569227.1:c.269T>G ENSP00000454701.1:p.Leu90Arg
NM_021951.2:c.743T>G NP_068770.2:p.Leu248Arg
XM_006716732.1:c.743T>G XP_006716795.1:p.Leu248Arg
XM_011517770.1:c.791T>G XP_011516072.1:p.Leu264Arg
XM_011517771.1:c.791T>G XP_011516073.1:p.Leu264Arg
XM_011517772.1:c.791T>G XP_011516074.1:p.Leu264Arg
XM_011517773.1:c.269T>G XP_011516075.1:p.Leu90Arg
NM_001363767.1:c.269T>G NP_001350696.1:p.Leu90Arg
XM_011517773.3:c.269T>G XP_011516075.1:p.Leu90Arg
XM_017014374.1:c.587-22647T>G XP_016869863.1:n.587-22647T>G
XM_017014375.1:c.539-22647T>G XP_016869864.1:n.539-22647T>G
XM_024447434.1:c.197T>G XP_024303202.1:p.Leu66Arg
NM_021951.3:c.743T>G MANE Select NP_068770.2:p.Leu248Arg