Canonical Allele Identifier: CA12946042
Gene: DMRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.845516A>C
GRCh37 chr9:g.845516A>C
gnomAD v2:
9:845516 A / C
gnomAD v3:
9:845516 A / C
gnomAD v4:
chr9-845516-A-C
Joint Max Group AF 0.25504824 (MID)
Genomes Max Group AF 0.24867753 (AFR)
dbSNP:
7040024
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.845516A>C , CM000671.2:g.845516A>C GRCh38
NC_000009.11:g.845516A>C , CM000671.1:g.845516A>C GRCh37
NC_000009.10:g.835516A>C NCBI36
NG_009221.1:g.8827A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382276.8:c.355-1444A>C MANE Select ENSP00000371711.3:n.355-1444A>C
ENST00000382276.7:c.355-1444A>C ENSP00000371711.3:n.355-1444A>C
ENST00000564322.1:n.504-1444A>C
ENST00000569227.1:c.-120-1444A>C ENSP00000454701.1:n.-120-1444A>C
NM_021951.2:c.355-1444A>C NP_068770.2:n.355-1444A>C
XM_006716732.1:c.355-1444A>C XP_006716795.1:n.355-1444A>C
XM_011517770.1:c.403-1444A>C XP_011516072.1:n.403-1444A>C
XM_011517771.1:c.403-1444A>C XP_011516073.1:n.403-1444A>C
XM_011517772.1:c.403-1444A>C XP_011516074.1:n.403-1444A>C
XM_011517773.1:c.-120-1444A>C XP_011516075.1:n.-120-1444A>C
NM_001363767.1:c.-120-1444A>C NP_001350696.1:n.-120-1444A>C
XM_011517773.3:c.-120-1444A>C XP_011516075.1:n.-120-1444A>C
XM_017014374.1:c.403-1444A>C XP_016869863.1:n.403-1444A>C
XM_017014375.1:c.355-1444A>C XP_016869864.1:n.355-1444A>C
NM_021951.3:c.355-1444A>C MANE Select NP_068770.2:n.355-1444A>C
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