Canonical Allele Identifier: CA616113855

Gene: UBR7

Linked Data

• dbSNP Id: rs1344870898
• gnomAD v2: 14-93685096-A-G
• gnomAD v3: 14-93218750-A-G
• gnomAD v4: 14-93218750-A-G
• MyVariant Identifiers: chr14:g.93685096A>G (hg19) ; chr14:g.93218750A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218750A>G , CM000676.2:g.93218750A>G	GRCh38
NC_000014.8:g.93685096A>G , CM000676.1:g.93685096A>G	GRCh37
NC_000014.7:g.92754849A>G	NCBI36
NG_051089.1:g.16695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.810+15A>G MANE Select	ENSP00000013070.6:n.810+15A>G
ENST00000013070.10:c.810+15A>G	ENSP00000013070.6:n.810+15A>G
ENST00000416753.5:c.582+15A>G	ENSP00000391706.2:n.582+15A>G
ENST00000553674.1:c.*511+15A>G	ENSP00000450470.1:n.*511+15A>G
ENST00000553857.5:c.378+3469A>G
ENST00000555329.1:c.55+15A>G
NM_175748.3:c.810+15A>G	NP_786924.2:n.810+15A>G
NR_038150.1:n.912+15A>G
NM_175748.4:c.810+15A>G MANE Select	NP_786924.2:n.810+15A>G
NR_038150.2:n.712+15A>G