Canonical Allele Identifier: CA833224240

Gene: UBE2H

Linked Data

• dbSNP Id: rs1281421456
• gnomAD v3: 7-129839103-A-C
• gnomAD v4: 7-129839103-A-C
• MyVariant Identifiers: chr7:g.129478943A>C (hg19) ; chr7:g.129839103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839103A>C , CM000669.2:g.129839103A>C	GRCh38
NC_000007.13:g.129478943A>C , CM000669.1:g.129478943A>C	GRCh37
NC_000007.12:g.129266179A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355621.8:c.427+104T>G MANE Select	ENSP00000347836.3:n.427+104T>G
ENST00000649897.1:c.217+104T>G	ENSP00000497987.1:n.217+104T>G
ENST00000355621.7:c.427+104T>G	ENSP00000347836.3:n.427+104T>G
ENST00000473814.6:c.334+104T>G	ENSP00000419097.2:n.334+104T>G
ENST00000483368.1:n.535+104T>G
ENST00000496698.5:c.328+104T>G	ENSP00000417681.1:n.328+104T>G
NM_001202498.1:c.217+104T>G	NP_001189427.1:n.217+104T>G
NM_003344.3:c.427+104T>G	NP_003335.1:n.427+104T>G
NM_182697.2:c.334+104T>G	NP_874356.1:n.334+104T>G
XM_011516547.1:c.616+104T>G	XP_011514849.1:n.616+104T>G
NM_001202498.2:c.217+104T>G	NP_001189427.1:n.217+104T>G
NM_003344.4:c.427+104T>G MANE Select	NP_003335.1:n.427+104T>G
NM_182697.3:c.334+104T>G	NP_874356.1:n.334+104T>G