Canonical Allele Identifier: CA2684877411
Gene: UBE2H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129839106A>G , CM000669.2:g.129839106A>G GRCh38
NC_000007.13:g.129478946A>G , CM000669.1:g.129478946A>G GRCh37
NC_000007.12:g.129266182A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000355621.8:c.427+101T>C MANE Select ENSP00000347836.3:n.427+101T>C
ENST00000649897.1:c.217+101T>C ENSP00000497987.1:n.217+101T>C
ENST00000355621.7:c.427+101T>C ENSP00000347836.3:n.427+101T>C
ENST00000473814.6:c.334+101T>C ENSP00000419097.2:n.334+101T>C
ENST00000483368.1:n.535+101T>C
ENST00000496698.5:c.328+101T>C ENSP00000417681.1:n.328+101T>C
NM_001202498.1:c.217+101T>C NP_001189427.1:n.217+101T>C
NM_003344.3:c.427+101T>C NP_003335.1:n.427+101T>C
NM_182697.2:c.334+101T>C NP_874356.1:n.334+101T>C
XM_011516547.1:c.616+101T>C XP_011514849.1:n.616+101T>C
NM_001202498.2:c.217+101T>C NP_001189427.1:n.217+101T>C
NM_003344.4:c.427+101T>C MANE Select NP_003335.1:n.427+101T>C
NM_182697.3:c.334+101T>C NP_874356.1:n.334+101T>C