Canonical Allele Identifier: CA369449034

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479053T>G (hg19) ; chr7:g.129839213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839213T>G , CM000669.2:g.129839213T>G	GRCh38
NC_000007.13:g.129479053T>G , CM000669.1:g.129479053T>G	GRCh37
NC_000007.12:g.129266289T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.421A>C MANE Select	ENSP00000347836.3:p.Ile141Leu
ENST00000649897.1:c.211A>C	ENSP00000497987.1:p.Ile71Leu
ENST00000355621.7:c.421A>C	ENSP00000347836.3:p.Ile141Leu
ENST00000472396.5:c.361A>C	ENSP00000419689.1:p.Ile121Leu
ENST00000473814.6:c.328A>C	ENSP00000419097.2:p.Ile110Leu
ENST00000483368.1:n.529A>C
ENST00000496698.5:c.322A>C	ENSP00000417681.1:p.Ile108Leu
NM_001202498.1:c.211A>C	NP_001189427.1:p.Ile71Leu
NM_003344.3:c.421A>C	NP_003335.1:p.Ile141Leu
NM_182697.2:c.328A>C	NP_874356.1:p.Ile110Leu
XM_011516547.1:c.610A>C	XP_011514849.1:p.Ile204Leu
NM_001202498.2:c.211A>C	NP_001189427.1:p.Ile71Leu
NM_003344.4:c.421A>C MANE Select	NP_003335.1:p.Ile141Leu
NM_182697.3:c.328A>C	NP_874356.1:p.Ile110Leu