Canonical Allele Identifier: CA390810659

Gene: UBR7

Linked Data

• dbSNP Id: rs1409440020
• gnomAD v2: 14-93684876-C-G
• MyVariant Identifiers: chr14:g.93684876C>G (hg19) ; chr14:g.93218530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218530C>G , CM000676.2:g.93218530C>G	GRCh38
NC_000014.8:g.93684876C>G , CM000676.1:g.93684876C>G	GRCh37
NC_000014.7:g.92754629C>G	NCBI36
NG_051089.1:g.16475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.605C>G MANE Select	ENSP00000013070.6:p.Thr202Ser
ENST00000013070.10:c.605C>G	ENSP00000013070.6:p.Thr202Ser
ENST00000416753.5:c.377C>G	ENSP00000391706.2:p.Thr126Ser
ENST00000553674.1:c.*306C>G	ENSP00000450470.1:n.*306C>G
ENST00000553857.5:c.378+3249C>G
ENST00000554232.5:c.509C>G	ENSP00000450645.1:p.Thr170Ser
ENST00000556871.5:c.314C>G	ENSP00000451022.1:p.Thr105Ser
ENST00000557048.1:n.514C>G
NM_175748.3:c.605C>G	NP_786924.2:p.Thr202Ser
NR_038150.1:n.707C>G
NM_175748.4:c.605C>G MANE Select	NP_786924.2:p.Thr202Ser
NR_038150.2:n.507C>G