Canonical Allele Identifier: CA4961407
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs764351242
gnomAD v2: 9-841848-G-C
gnomAD v3: 9-841848-G-C
gnomAD v4: 9-841848-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.841848G>C , CM000671.2:g.841848G>C GRCh38
NC_000009.11:g.841848G>C , CM000671.1:g.841848G>C GRCh37
NC_000009.10:g.831848G>C NCBI36
NG_009221.1:g.5159G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.10G>C MANE Select ENSP00000371711.3:p.Asp4His
ENST00000382276.7:c.10G>C ENSP00000371711.3:p.Asp4His
ENST00000564322.1:n.159G>C
NM_021951.2:c.10G>C NP_068770.2:p.Asp4His
XM_006716732.1:c.10G>C XP_006716795.1:p.Asp4His
XM_017014375.1:c.10G>C XP_016869864.1:p.Asp4His
NM_021951.3:c.10G>C MANE Select NP_068770.2:p.Asp4His