Canonical Allele Identifier: CA372776386
Gene: DMRT1 HGNC NCBI

Linked Data

gnomAD v4: 9-893945-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000382276.8:c.572T>A MANE Select ENSP00000371711.3:p.Val191Asp
ENST00000382276.7:c.572T>A ENSP00000371711.3:p.Val191Asp
ENST00000564322.1:n.721T>A
ENST00000569227.1:c.98T>A ENSP00000454701.1:p.Val33Asp
NM_021951.2:c.572T>A NP_068770.2:p.Val191Asp
XM_006716732.1:c.572T>A XP_006716795.1:p.Val191Asp
XM_011517770.1:c.620T>A XP_011516072.1:p.Val207Asp
XM_011517771.1:c.620T>A XP_011516073.1:p.Val207Asp
XM_011517772.1:c.620T>A XP_011516074.1:p.Val207Asp
XM_011517773.1:c.98T>A XP_011516075.1:p.Val33Asp
NM_001363767.1:c.98T>A NP_001350696.1:p.Val33Asp
XM_011517773.3:c.98T>A XP_011516075.1:p.Val33Asp
XM_017014374.1:c.587-22818T>A XP_016869863.1:n.587-22818T>A
XM_017014375.1:c.539-22818T>A XP_016869864.1:n.539-22818T>A
XM_024447434.1:c.26T>A XP_024303202.1:p.Val9Asp
NM_021951.3:c.572T>A MANE Select NP_068770.2:p.Val191Asp