Canonical Allele Identifier: CA4961409
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs762413208
gnomAD v2: 9-841853-G-A
gnomAD v3: 9-841853-G-A
gnomAD v4: 9-841853-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.841853G>A , CM000671.2:g.841853G>A GRCh38
NC_000009.11:g.841853G>A , CM000671.1:g.841853G>A GRCh37
NC_000009.10:g.831853G>A NCBI36
NG_009221.1:g.5164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.15G>A MANE Select ENSP00000371711.3:p.Glu5=
ENST00000382276.7:c.15G>A ENSP00000371711.3:p.Glu5=
ENST00000564322.1:n.164G>A
NM_021951.2:c.15G>A NP_068770.2:p.Glu5=
XM_006716732.1:c.15G>A XP_006716795.1:p.Glu5=
XM_017014375.1:c.15G>A XP_016869864.1:p.Glu5=
NM_021951.3:c.15G>A MANE Select NP_068770.2:p.Glu5=