Canonical Allele Identifier: CA390810699

Gene: UBR7

Linked Data

• gnomAD v4: 14-93218548-A-G
• MyVariant Identifiers: chr14:g.93684894A>G (hg19) ; chr14:g.93218548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218548A>G , CM000676.2:g.93218548A>G	GRCh38
NC_000014.8:g.93684894A>G , CM000676.1:g.93684894A>G	GRCh37
NC_000014.7:g.92754647A>G	NCBI36
NG_051089.1:g.16493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.623A>G MANE Select	ENSP00000013070.6:p.Asp208Gly
ENST00000013070.10:c.623A>G	ENSP00000013070.6:p.Asp208Gly
ENST00000416753.5:c.395A>G	ENSP00000391706.2:p.Asp132Gly
ENST00000553674.1:c.*324A>G	ENSP00000450470.1:n.*324A>G
ENST00000553857.5:c.378+3267A>G
ENST00000554232.5:c.527A>G	ENSP00000450645.1:p.Asp176Gly
ENST00000556871.5:c.332A>G	ENSP00000451022.1:p.Asp111Gly
ENST00000557048.1:n.532A>G
NM_175748.3:c.623A>G	NP_786924.2:p.Asp208Gly
NR_038150.1:n.725A>G
NM_175748.4:c.623A>G MANE Select	NP_786924.2:p.Asp208Gly
NR_038150.2:n.525A>G