Canonical Allele Identifier: CA463850350
Gene: DMRT1 HGNC NCBI

Linked Data

dbSNP Id: rs781276476
gnomAD v3: 9-894060-G-C
gnomAD v4: 9-894060-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.894060G>C , CM000671.2:g.894060G>C GRCh38
NC_000009.11:g.894060G>C , CM000671.1:g.894060G>C GRCh37
NC_000009.10:g.884060G>C NCBI36
NG_009221.1:g.57371G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.687G>C MANE Select ENSP00000371711.3:p.Pro229=
ENST00000382276.7:c.687G>C ENSP00000371711.3:p.Pro229=
ENST00000564322.1:n.836G>C
ENST00000569227.1:c.213G>C ENSP00000454701.1:p.Pro71=
NM_021951.2:c.687G>C NP_068770.2:p.Pro229=
XM_006716732.1:c.687G>C XP_006716795.1:p.Pro229=
XM_011517770.1:c.735G>C XP_011516072.1:p.Pro245=
XM_011517771.1:c.735G>C XP_011516073.1:p.Pro245=
XM_011517772.1:c.735G>C XP_011516074.1:p.Pro245=
XM_011517773.1:c.213G>C XP_011516075.1:p.Pro71=
NM_001363767.1:c.213G>C NP_001350696.1:p.Pro71=
XM_011517773.3:c.213G>C XP_011516075.1:p.Pro71=
XM_017014374.1:c.587-22703G>C XP_016869863.1:n.587-22703G>C
XM_017014375.1:c.539-22703G>C XP_016869864.1:n.539-22703G>C
XM_024447434.1:c.141G>C XP_024303202.1:p.Pro47=
NM_021951.3:c.687G>C MANE Select NP_068770.2:p.Pro229=