Canonical Allele Identifier: CA372776971
Gene: DMRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894115C>T , CM000671.2:g.894115C>T GRCh38
NC_000009.11:g.894115C>T , CM000671.1:g.894115C>T GRCh37
NC_000009.10:g.884115C>T NCBI36
NG_009221.1:g.57426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.742C>T MANE Select ENSP00000371711.3:p.Leu248Phe
ENST00000382276.7:c.742C>T ENSP00000371711.3:p.Leu248Phe
ENST00000564322.1:n.891C>T
ENST00000569227.1:c.268C>T ENSP00000454701.1:p.Leu90Phe
NM_021951.2:c.742C>T NP_068770.2:p.Leu248Phe
XM_006716732.1:c.742C>T XP_006716795.1:p.Leu248Phe
XM_011517770.1:c.790C>T XP_011516072.1:p.Leu264Phe
XM_011517771.1:c.790C>T XP_011516073.1:p.Leu264Phe
XM_011517772.1:c.790C>T XP_011516074.1:p.Leu264Phe
XM_011517773.1:c.268C>T XP_011516075.1:p.Leu90Phe
NM_001363767.1:c.268C>T NP_001350696.1:p.Leu90Phe
XM_011517773.3:c.268C>T XP_011516075.1:p.Leu90Phe
XM_017014374.1:c.587-22648C>T XP_016869863.1:n.587-22648C>T
XM_017014375.1:c.539-22648C>T XP_016869864.1:n.539-22648C>T
XM_024447434.1:c.196C>T XP_024303202.1:p.Leu66Phe
NM_021951.3:c.742C>T MANE Select NP_068770.2:p.Leu248Phe