Canonical Allele Identifier: CA265761393

Gene: UBR7

Linked Data

• dbSNP Id: rs200300034
• gnomAD v3: 14-93218538-T-C
• gnomAD v4: 14-93218538-T-C
• MyVariant Identifiers: chr14:g.93684884T>C (hg19) ; chr14:g.93218538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218538T>C , CM000676.2:g.93218538T>C	GRCh38
NC_000014.8:g.93684884T>C , CM000676.1:g.93684884T>C	GRCh37
NC_000014.7:g.92754637T>C	NCBI36
NG_051089.1:g.16483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.613T>C MANE Select	ENSP00000013070.6:p.Ser205Pro
ENST00000013070.10:c.613T>C	ENSP00000013070.6:p.Ser205Pro
ENST00000416753.5:c.385T>C	ENSP00000391706.2:p.Ser129Pro
ENST00000553674.1:c.*314T>C	ENSP00000450470.1:n.*314T>C
ENST00000553857.5:c.378+3257T>C
ENST00000554232.5:c.517T>C	ENSP00000450645.1:p.Ser173Pro
ENST00000556871.5:c.322T>C	ENSP00000451022.1:p.Ser108Pro
ENST00000557048.1:n.522T>C
NM_175748.3:c.613T>C	NP_786924.2:p.Ser205Pro
NR_038150.1:n.715T>C
NM_175748.4:c.613T>C MANE Select	NP_786924.2:p.Ser205Pro
NR_038150.2:n.515T>C