Canonical Allele Identifier: CA7319904

Gene: UBR7

Linked Data

• dbSNP Id: rs780950055
• ExAC: 14:93684942 T / C
• gnomAD v3: 14-93218596-T-C
• gnomAD v4: 14-93218596-T-C
• MyVariant Identifiers: chr14:g.93684942T>C (hg19) ; chr14:g.93218596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218596T>C , CM000676.2:g.93218596T>C	GRCh38
NC_000014.8:g.93684942T>C , CM000676.1:g.93684942T>C	GRCh37
NC_000014.7:g.92754695T>C	NCBI36
NG_051089.1:g.16541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.671T>C MANE Select	ENSP00000013070.6:p.Ile224Thr
ENST00000013070.10:c.671T>C	ENSP00000013070.6:p.Ile224Thr
ENST00000416753.5:c.443T>C	ENSP00000391706.2:p.Ile148Thr
ENST00000553674.1:c.*372T>C	ENSP00000450470.1:n.*372T>C
ENST00000553857.5:c.378+3315T>C
ENST00000556871.5:c.380T>C	ENSP00000451022.1:p.Ile127Thr
NM_175748.3:c.671T>C	NP_786924.2:p.Ile224Thr
NR_038150.1:n.773T>C
NM_175748.4:c.671T>C MANE Select	NP_786924.2:p.Ile224Thr
NR_038150.2:n.573T>C