Canonical Allele Identifier: CA4961786

Gene: DMRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.968054A>G , CM000671.2:g.968054A>G	GRCh38
NC_000009.11:g.968054A>G , CM000671.1:g.968054A>G	GRCh37
NC_000009.10:g.958054A>G	NCBI36
NG_009221.1:g.131365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382276.8:c.1037A>G MANE Select	ENSP00000371711.3:p.Lys346Arg
ENST00000382276.7:c.1037A>G	ENSP00000371711.3:p.Lys346Arg
ENST00000569227.1:c.563A>G	ENSP00000454701.1:p.Lys188Arg
NM_021951.2:c.1037A>G	NP_068770.2:p.Lys346Arg
XM_006716732.1:c.1040A>G	XP_006716795.1:p.Lys347Arg
XM_011517770.1:c.1088A>G	XP_011516072.1:p.Lys363Arg
XM_011517771.1:c.1085A>G	XP_011516073.1:p.Lys362Arg
XM_011517772.1:c.940A>G	XP_011516074.1:p.Arg314Gly
XM_011517773.1:c.566A>G	XP_011516075.1:p.Lys189Arg
NM_001363767.1:c.563A>G	NP_001350696.1:p.Lys188Arg
XM_011517773.3:c.566A>G	XP_011516075.1:p.Lys189Arg
XM_017014374.1:c.*105A>G	XP_016869863.1:n.*105A>G
XM_017014375.1:c.*105A>G	XP_016869864.1:n.*105A>G
XM_024447434.1:c.491A>G	XP_024303202.1:p.Lys164Arg
NM_021951.3:c.1037A>G MANE Select	NP_068770.2:p.Lys346Arg