Canonical Allele Identifier: CA2684877409

Gene: UBE2H

Linked Data

• gnomAD v4: 7-129839105-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839105A>G , CM000669.2:g.129839105A>G	GRCh38
NC_000007.13:g.129478945A>G , CM000669.1:g.129478945A>G	GRCh37
NC_000007.12:g.129266181A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355621.8:c.427+102T>C MANE Select	ENSP00000347836.3:n.427+102T>C
ENST00000649897.1:c.217+102T>C	ENSP00000497987.1:n.217+102T>C
ENST00000355621.7:c.427+102T>C	ENSP00000347836.3:n.427+102T>C
ENST00000473814.6:c.334+102T>C	ENSP00000419097.2:n.334+102T>C
ENST00000483368.1:n.535+102T>C
ENST00000496698.5:c.328+102T>C	ENSP00000417681.1:n.328+102T>C
NM_001202498.1:c.217+102T>C	NP_001189427.1:n.217+102T>C
NM_003344.3:c.427+102T>C	NP_003335.1:n.427+102T>C
NM_182697.2:c.334+102T>C	NP_874356.1:n.334+102T>C
XM_011516547.1:c.616+102T>C	XP_011514849.1:n.616+102T>C
NM_001202498.2:c.217+102T>C	NP_001189427.1:n.217+102T>C
NM_003344.4:c.427+102T>C MANE Select	NP_003335.1:n.427+102T>C
NM_182697.3:c.334+102T>C	NP_874356.1:n.334+102T>C