Canonical Allele Identifier: CA2684877489

Gene: UBE2H

Linked Data

• gnomAD v4: 7-129839199-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839199C>A , CM000669.2:g.129839199C>A	GRCh38
NC_000007.13:g.129479039C>A , CM000669.1:g.129479039C>A	GRCh37
NC_000007.12:g.129266275C>A	NCBI36

Transcript Alleles

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