Canonical Allele Identifier: CA369449027

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479052A>T (hg19) ; chr7:g.129839212A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839212A>T , CM000669.2:g.129839212A>T	GRCh38
NC_000007.13:g.129479052A>T , CM000669.1:g.129479052A>T	GRCh37
NC_000007.12:g.129266288A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.422T>A MANE Select	ENSP00000347836.3:p.Ile141Asn
ENST00000649897.1:c.212T>A	ENSP00000497987.1:p.Ile71Asn
ENST00000355621.7:c.422T>A	ENSP00000347836.3:p.Ile141Asn
ENST00000472396.5:c.362T>A	ENSP00000419689.1:p.Ile121Asn
ENST00000473814.6:c.329T>A	ENSP00000419097.2:p.Ile110Asn
ENST00000483368.1:n.530T>A
ENST00000496698.5:c.323T>A	ENSP00000417681.1:p.Ile108Asn
NM_001202498.1:c.212T>A	NP_001189427.1:p.Ile71Asn
NM_003344.3:c.422T>A	NP_003335.1:p.Ile141Asn
NM_182697.2:c.329T>A	NP_874356.1:p.Ile110Asn
XM_011516547.1:c.611T>A	XP_011514849.1:p.Ile204Asn
NM_001202498.2:c.212T>A	NP_001189427.1:p.Ile71Asn
NM_003344.4:c.422T>A MANE Select	NP_003335.1:p.Ile141Asn
NM_182697.3:c.329T>A	NP_874356.1:p.Ile110Asn