Canonical Allele Identifier: CA369449001

Gene: UBE2H

Linked Data

• gnomAD v4: 7-129839207-C-G
• MyVariant Identifiers: chr7:g.129479047C>G (hg19) ; chr7:g.129839207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839207C>G , CM000669.2:g.129839207C>G	GRCh38
NC_000007.13:g.129479047C>G , CM000669.1:g.129479047C>G	GRCh37
NC_000007.12:g.129266283C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.427G>C MANE Select	ENSP00000347836.3:p.Glu143Gln
ENST00000649897.1:c.217G>C	ENSP00000497987.1:p.Glu73Gln
ENST00000355621.7:c.427G>C	ENSP00000347836.3:p.Glu143Gln
ENST00000472396.5:c.367G>C	ENSP00000419689.1:p.Gly123Arg
ENST00000473814.6:c.334G>C	ENSP00000419097.2:p.Glu112Gln
ENST00000483368.1:n.535G>C
ENST00000496698.5:c.328G>C	ENSP00000417681.1:p.Glu110Gln
NM_001202498.1:c.217G>C	NP_001189427.1:p.Glu73Gln
NM_003344.3:c.427G>C	NP_003335.1:p.Glu143Gln
NM_182697.2:c.334G>C	NP_874356.1:p.Glu112Gln
XM_011516547.1:c.616G>C	XP_011514849.1:p.Glu206Gln
NM_001202498.2:c.217G>C	NP_001189427.1:p.Glu73Gln
NM_003344.4:c.427G>C MANE Select	NP_003335.1:p.Glu143Gln
NM_182697.3:c.334G>C	NP_874356.1:p.Glu112Gln