Canonical Allele Identifier: CA9909143
Community Standard Title: NM_003859.3(DPM1):c.303A>T (p.Ala101=)
Gene: DPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.50945916T>A , CM000682.2:g.50945916T>A GRCh38
NC_000020.10:g.49562453T>A , CM000682.1:g.49562453T>A GRCh37
NC_000020.9:g.48995860T>A NCBI36
NG_008923.1:g.17608A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003859.3:c.303A>T MANE Select NP_003850.1:p.Ala101=
ENST00000371588.10:c.303A>T MANE Select ENSP00000360644.5:p.Ala101=
NM_001317034.1:c.303A>T NP_001303963.1:p.Ala101=
NM_001317035.1:c.303A>T NP_001303964.1:p.Ala101=
NM_001317036.1:c.303A>T NP_001303965.1:p.Ala101=
NM_003859.1:c.303A>T NP_003850.1:p.Ala101=
NM_003859.2:c.303A>T NP_003850.1:p.Ala101=
NR_133648.1:n.344A>T
NR_133648.2:n.312A>T
ENST00000371582.8:c.303A>T ENSP00000360638.4:p.Ala101=
ENST00000371584.8:c.301A>T
ENST00000371584.9:c.303A>T ENSP00000360640.5:p.Ala101=
ENST00000371588.9:c.303A>T ENSP00000360644.5:p.Ala101=
ENST00000413082.1:c.303A>T ENSP00000394921.1:p.Ala101=
ENST00000466152.5:n.330A>T
ENST00000681979.1:n.197A>T
ENST00000682713.1:n.852A>T
ENST00000682754.1:n.301A>T
ENST00000683010.1:n.2010A>T
ENST00000683048.1:c.303A>T ENSP00000506986.1:p.Ala101=
ENST00000683466.1:c.-13A>T ENSP00000507404.1:n.-13A>T
ENST00000684708.1:n.232A>T
XM_011529093.1:c.303A>T XP_011527395.1:p.Ala101=
XM_011529094.1:c.303A>T XP_011527396.1:p.Ala101=
XR_002958550.1:n.341A>T
XR_002958551.1:n.342A>T