Canonical Allele Identifier: CA4961406
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs147366726
gnomAD v2: 9-841842-C-A
gnomAD v4: 9-841842-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.841842C>A , CM000671.2:g.841842C>A GRCh38
NC_000009.11:g.841842C>A , CM000671.1:g.841842C>A GRCh37
NC_000009.10:g.831842C>A NCBI36
NG_009221.1:g.5153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.4C>A MANE Select ENSP00000371711.3:p.Pro2Thr
ENST00000382276.7:c.4C>A ENSP00000371711.3:p.Pro2Thr
ENST00000564322.1:n.153C>A
NM_021951.2:c.4C>A NP_068770.2:p.Pro2Thr
XM_006716732.1:c.4C>A XP_006716795.1:p.Pro2Thr
XM_017014375.1:c.4C>A XP_016869864.1:p.Pro2Thr
NM_021951.3:c.4C>A MANE Select NP_068770.2:p.Pro2Thr