Canonical Allele Identifier: CA369449024

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479051A>C (hg19) ; chr7:g.129839211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839211A>C , CM000669.2:g.129839211A>C	GRCh38
NC_000007.13:g.129479051A>C , CM000669.1:g.129479051A>C	GRCh37
NC_000007.12:g.129266287A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.423T>G MANE Select	ENSP00000347836.3:p.Ile141Met
ENST00000649897.1:c.213T>G	ENSP00000497987.1:p.Ile71Met
ENST00000355621.7:c.423T>G	ENSP00000347836.3:p.Ile141Met
ENST00000472396.5:c.363T>G	ENSP00000419689.1:p.Ile121Met
ENST00000473814.6:c.330T>G	ENSP00000419097.2:p.Ile110Met
ENST00000483368.1:n.531T>G
ENST00000496698.5:c.324T>G	ENSP00000417681.1:p.Ile108Met
NM_001202498.1:c.213T>G	NP_001189427.1:p.Ile71Met
NM_003344.3:c.423T>G	NP_003335.1:p.Ile141Met
NM_182697.2:c.330T>G	NP_874356.1:p.Ile110Met
XM_011516547.1:c.612T>G	XP_011514849.1:p.Ile204Met
NM_001202498.2:c.213T>G	NP_001189427.1:p.Ile71Met
NM_003344.4:c.423T>G MANE Select	NP_003335.1:p.Ile141Met
NM_182697.3:c.330T>G	NP_874356.1:p.Ile110Met