Canonical Allele Identifier: CA6954090

Gene: UFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.38360731G>C , CM000675.2:g.38360731G>C	GRCh38
NC_000013.10:g.38934868G>C , CM000675.1:g.38934868G>C	GRCh37
NC_000013.9:g.37832868G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016617.4:c.211G>C MANE Select	NP_057701.1:p.Gly71Arg
ENST00000239878.9:c.211G>C MANE Select	ENSP00000239878.4:p.Gly71Arg
NM_001286703.1:c.205G>C	NP_001273632.1:p.Gly69Arg
NM_001286703.2:c.205G>C	NP_001273632.1:p.Gly69Arg
NM_001286704.1:c.265G>C	NP_001273633.1:p.Gly89Arg
NM_001286704.2:c.265G>C	NP_001273633.1:p.Gly89Arg
NM_001286705.1:c.*31G>C	NP_001273634.1:n.*31G>C
NM_001286705.2:c.*31G>C	NP_001273634.1:n.*31G>C
NM_001286706.1:c.*665G>C	NP_001273635.1:n.*665G>C
NM_001286706.2:c.*665G>C	NP_001273635.1:n.*665G>C
NM_016617.3:c.211G>C	NP_057701.1:p.Gly71Arg
NR_104584.1:n.421G>C
NR_104584.2:n.341G>C
NR_104585.1:n.320G>C
NR_104585.2:n.240G>C
ENST00000239878.8:c.211G>C	ENSP00000239878.4:p.Gly71Arg
ENST00000379649.5:c.265G>C	ENSP00000368970.1:p.Gly89Arg