Canonical Allele Identifier: CA369449052

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479057C>A (hg19) ; chr7:g.129839217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839217C>A , CM000669.2:g.129839217C>A	GRCh38
NC_000007.13:g.129479057C>A , CM000669.1:g.129479057C>A	GRCh37
NC_000007.12:g.129266293C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.417G>T MANE Select	ENSP00000347836.3:p.Gln139His
ENST00000649897.1:c.207G>T	ENSP00000497987.1:p.Gln69His
ENST00000355621.7:c.417G>T	ENSP00000347836.3:p.Gln139His
ENST00000472396.5:c.357G>T	ENSP00000419689.1:p.Gln119His
ENST00000473814.6:c.324G>T	ENSP00000419097.2:p.Gln108His
ENST00000483368.1:n.525G>T
ENST00000496698.5:c.318G>T	ENSP00000417681.1:p.Gln106His
NM_001202498.1:c.207G>T	NP_001189427.1:p.Gln69His
NM_003344.3:c.417G>T	NP_003335.1:p.Gln139His
NM_182697.2:c.324G>T	NP_874356.1:p.Gln108His
XM_011516547.1:c.606G>T	XP_011514849.1:p.Gln202His
NM_001202498.2:c.207G>T	NP_001189427.1:p.Gln69His
NM_003344.4:c.417G>T MANE Select	NP_003335.1:p.Gln139His
NM_182697.3:c.324G>T	NP_874356.1:p.Gln108His