Canonical Allele Identifier: CA369449246

Gene: UBE2H

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839298T>G , CM000669.2:g.129839298T>G	GRCh38
NC_000007.13:g.129479138T>G , CM000669.1:g.129479138T>G	GRCh37
NC_000007.12:g.129266374T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355621.8:c.336A>C MANE Select	ENSP00000347836.3:p.Leu112Phe
ENST00000649897.1:c.126A>C	ENSP00000497987.1:p.Leu42Phe
ENST00000355621.7:c.336A>C	ENSP00000347836.3:p.Leu112Phe
ENST00000472396.5:c.299-23A>C	ENSP00000419689.1:n.299-23A>C
ENST00000473814.6:c.243A>C	ENSP00000419097.2:p.Leu81Phe
ENST00000480245.5:c.363A>C	ENSP00000417709.1:n.363A>C
ENST00000483368.1:n.444A>C
ENST00000496698.5:c.237A>C	ENSP00000417681.1:p.Leu79Phe
NM_001202498.1:c.126A>C	NP_001189427.1:p.Leu42Phe
NM_003344.3:c.336A>C	NP_003335.1:p.Leu112Phe
NM_182697.2:c.243A>C	NP_874356.1:p.Leu81Phe
XM_011516547.1:c.525A>C	XP_011514849.1:p.Leu175Phe
NM_001202498.2:c.126A>C	NP_001189427.1:p.Leu42Phe
NM_003344.4:c.336A>C MANE Select	NP_003335.1:p.Leu112Phe
NM_182697.3:c.243A>C	NP_874356.1:p.Leu81Phe