Canonical Allele Identifier: CA617633936
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs188101955
gnomAD v2: 15-43340534-C-T
gnomAD v3: 15-43048336-C-T
gnomAD v4: 15-43048336-C-T
MyVariant Identifiers: chr15:g.43340534C>T (hg19) chr15:g.43048336C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048336C>T , CM000677.2:g.43048336C>T GRCh38
NC_000015.9:g.43340534C>T , CM000677.1:g.43340534C>T GRCh37
NC_000015.8:g.41127826C>T NCBI36
NG_012182.1:g.62753G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+56G>A MANE Select ENSP00000290650.4:n.1539+56G>A
ENST00000290650.8:c.1539+56G>A ENSP00000290650.4:n.1539+56G>A
ENST00000546274.6:c.1539+56G>A ENSP00000477932.1:n.1539+56G>A
ENST00000563239.1:c.*203-1047G>A ENSP00000456502.1:n.*203-1047G>A
ENST00000569971.5:c.410+56G>A ENSP00000455759.1:n.410+56G>A
NM_174916.2:c.1539+56G>A NP_777576.1:n.1539+56G>A
NM_174916.3:c.1539+56G>A MANE Select NP_777576.1:n.1539+56G>A
Search 100 bp 5'
Search 100 bp 3'