Canonical Allele Identifier: CA4961659
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs751511120
gnomAD v2: 9-894173-G-A
gnomAD v4: 9-894173-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894173G>A , CM000671.2:g.894173G>A GRCh38
NC_000009.11:g.894173G>A , CM000671.1:g.894173G>A GRCh37
NC_000009.10:g.884173G>A NCBI36
NG_009221.1:g.57484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.800G>A MANE Select ENSP00000371711.3:p.Gly267Asp
ENST00000382276.7:c.800G>A ENSP00000371711.3:p.Gly267Asp
ENST00000564322.1:n.949G>A
ENST00000569227.1:c.326G>A ENSP00000454701.1:p.Gly109Asp
NM_021951.2:c.800G>A NP_068770.2:p.Gly267Asp
XM_006716732.1:c.800G>A XP_006716795.1:p.Gly267Asp
XM_011517770.1:c.848G>A XP_011516072.1:p.Gly283Asp
XM_011517771.1:c.848G>A XP_011516073.1:p.Gly283Asp
XM_011517772.1:c.848G>A XP_011516074.1:p.Gly283Asp
XM_011517773.1:c.326G>A XP_011516075.1:p.Gly109Asp
NM_001363767.1:c.326G>A NP_001350696.1:p.Gly109Asp
XM_011517773.3:c.326G>A XP_011516075.1:p.Gly109Asp
XM_017014374.1:c.587-22590G>A XP_016869863.1:n.587-22590G>A
XM_017014375.1:c.539-22590G>A XP_016869864.1:n.539-22590G>A
XM_024447434.1:c.254G>A XP_024303202.1:p.Gly85Asp
NM_021951.3:c.800G>A MANE Select NP_068770.2:p.Gly267Asp