Canonical Allele Identifier: CA372776384
Gene: DMRT1 HGNC NCBI

Linked Data

COSMIC: COSM382945

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.893945T>C , CM000671.2:g.893945T>C GRCh38
NC_000009.11:g.893945T>C , CM000671.1:g.893945T>C GRCh37
NC_000009.10:g.883945T>C NCBI36
NG_009221.1:g.57256T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382276.8:c.572T>C MANE Select ENSP00000371711.3:p.Val191Ala
ENST00000382276.7:c.572T>C ENSP00000371711.3:p.Val191Ala
ENST00000564322.1:n.721T>C
ENST00000569227.1:c.98T>C ENSP00000454701.1:p.Val33Ala
NM_021951.2:c.572T>C NP_068770.2:p.Val191Ala
XM_006716732.1:c.572T>C XP_006716795.1:p.Val191Ala
XM_011517770.1:c.620T>C XP_011516072.1:p.Val207Ala
XM_011517771.1:c.620T>C XP_011516073.1:p.Val207Ala
XM_011517772.1:c.620T>C XP_011516074.1:p.Val207Ala
XM_011517773.1:c.98T>C XP_011516075.1:p.Val33Ala
NM_001363767.1:c.98T>C NP_001350696.1:p.Val33Ala
XM_011517773.3:c.98T>C XP_011516075.1:p.Val33Ala
XM_017014374.1:c.587-22818T>C XP_016869863.1:n.587-22818T>C
XM_017014375.1:c.539-22818T>C XP_016869864.1:n.539-22818T>C
XM_024447434.1:c.26T>C XP_024303202.1:p.Val9Ala
NM_021951.3:c.572T>C MANE Select NP_068770.2:p.Val191Ala