Canonical Allele Identifier: CA408989644
Community Standard Title: NM_003859.3(DPM1):c.368A>G (p.His123Arg)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50945851T>C , CM000682.2:g.50945851T>C GRCh38
NC_000020.10:g.49562388T>C , CM000682.1:g.49562388T>C GRCh37
NC_000020.9:g.48995795T>C NCBI36
NG_008923.1:g.17673A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.368A>G MANE Select NP_003850.1:p.His123Arg
ENST00000371588.10:c.368A>G MANE Select ENSP00000360644.5:p.His123Arg
NM_001317034.1:c.368A>G NP_001303963.1:p.His123Arg
NM_001317035.1:c.368A>G NP_001303964.1:p.His123Arg
NM_001317036.1:c.368A>G NP_001303965.1:p.His123Arg
NM_003859.1:c.368A>G NP_003850.1:p.His123Arg
NM_003859.2:c.368A>G NP_003850.1:p.His123Arg
NR_133648.1:n.409A>G
NR_133648.2:n.377A>G
ENST00000371582.8:c.368A>G ENSP00000360638.4:p.His123Arg
ENST00000371584.8:c.366A>G
ENST00000371584.9:c.368A>G ENSP00000360640.5:p.His123Arg
ENST00000371588.9:c.368A>G ENSP00000360644.5:p.His123Arg
ENST00000413082.1:c.368A>G ENSP00000394921.1:p.His123Arg
ENST00000466152.5:n.395A>G
ENST00000494752.1:n.11A>G
ENST00000681979.1:n.262A>G
ENST00000682713.1:n.917A>G
ENST00000682754.1:n.366A>G
ENST00000683010.1:n.2075A>G
ENST00000683048.1:c.368A>G ENSP00000506986.1:p.His123Arg
ENST00000683466.1:c.53A>G ENSP00000507404.1:p.His18Arg
ENST00000684708.1:n.297A>G
XM_011529093.1:c.368A>G XP_011527395.1:p.His123Arg
XM_011529094.1:c.368A>G XP_011527396.1:p.His123Arg
XR_002958550.1:n.406A>G
XR_002958551.1:n.407A>G