Canonical Allele Identifier: CA390810702

Gene: UBR7

Linked Data

• MyVariant Identifiers: chr14:g.93684896G>C (hg19) ; chr14:g.93218550G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218550G>C , CM000676.2:g.93218550G>C	GRCh38
NC_000014.8:g.93684896G>C , CM000676.1:g.93684896G>C	GRCh37
NC_000014.7:g.92754649G>C	NCBI36
NG_051089.1:g.16495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.625G>C MANE Select	ENSP00000013070.6:p.Asp209His
ENST00000013070.10:c.625G>C	ENSP00000013070.6:p.Asp209His
ENST00000416753.5:c.397G>C	ENSP00000391706.2:p.Asp133His
ENST00000553674.1:c.*326G>C	ENSP00000450470.1:n.*326G>C
ENST00000553857.5:c.378+3269G>C
ENST00000554232.5:c.529G>C	ENSP00000450645.1:p.Asp177His
ENST00000556871.5:c.334G>C	ENSP00000451022.1:p.Asp112His
ENST00000557048.1:n.534G>C
NM_175748.3:c.625G>C	NP_786924.2:p.Asp209His
NR_038150.1:n.727G>C
NM_175748.4:c.625G>C MANE Select	NP_786924.2:p.Asp209His
NR_038150.2:n.527G>C