Canonical Allele Identifier: CA457730330
Gene: UBE2H HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.129479048T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129839208T>C , CM000669.2:g.129839208T>C GRCh38
NC_000007.13:g.129479048T>C , CM000669.1:g.129479048T>C GRCh37
NC_000007.12:g.129266284T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000355621.8:c.426A>G MANE Select ENSP00000347836.3:p.Lys142=
ENST00000649897.1:c.216A>G ENSP00000497987.1:p.Lys72=
ENST00000355621.7:c.426A>G ENSP00000347836.3:p.Lys142=
ENST00000472396.5:c.366A>G ENSP00000419689.1:p.Lys122=
ENST00000473814.6:c.333A>G ENSP00000419097.2:p.Lys111=
ENST00000483368.1:n.534A>G
ENST00000496698.5:c.327A>G ENSP00000417681.1:p.Lys109=
NM_001202498.1:c.216A>G NP_001189427.1:p.Lys72=
NM_003344.3:c.426A>G NP_003335.1:p.Lys142=
NM_182697.2:c.333A>G NP_874356.1:p.Lys111=
XM_011516547.1:c.615A>G XP_011514849.1:p.Lys205=
NM_001202498.2:c.216A>G NP_001189427.1:p.Lys72=
NM_003344.4:c.426A>G MANE Select NP_003335.1:p.Lys142=
NM_182697.3:c.333A>G NP_874356.1:p.Lys111=