Canonical Allele Identifier: CA369449038

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479054T>G (hg19) ; chr7:g.129839214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839214T>G , CM000669.2:g.129839214T>G	GRCh38
NC_000007.13:g.129479054T>G , CM000669.1:g.129479054T>G	GRCh37
NC_000007.12:g.129266290T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.420A>C MANE Select	ENSP00000347836.3:p.Lys140Asn
ENST00000649897.1:c.210A>C	ENSP00000497987.1:p.Lys70Asn
ENST00000355621.7:c.420A>C	ENSP00000347836.3:p.Lys140Asn
ENST00000472396.5:c.360A>C	ENSP00000419689.1:p.Lys120Asn
ENST00000473814.6:c.327A>C	ENSP00000419097.2:p.Lys109Asn
ENST00000483368.1:n.528A>C
ENST00000496698.5:c.321A>C	ENSP00000417681.1:p.Lys107Asn
NM_001202498.1:c.210A>C	NP_001189427.1:p.Lys70Asn
NM_003344.3:c.420A>C	NP_003335.1:p.Lys140Asn
NM_182697.2:c.327A>C	NP_874356.1:p.Lys109Asn
XM_011516547.1:c.609A>C	XP_011514849.1:p.Lys203Asn
NM_001202498.2:c.210A>C	NP_001189427.1:p.Lys70Asn
NM_003344.4:c.420A>C MANE Select	NP_003335.1:p.Lys140Asn
NM_182697.3:c.327A>C	NP_874356.1:p.Lys109Asn