Canonical Allele Identifier: CA2173015226
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs762544291
gnomAD v4: 15-43048296-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048296C>A , CM000677.2:g.43048296C>A GRCh38
NC_000015.9:g.43340494C>A , CM000677.1:g.43340494C>A GRCh37
NC_000015.8:g.41127786C>A NCBI36
NG_012182.1:g.62793G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+96G>T MANE Select ENSP00000290650.4:n.1539+96G>T
ENST00000290650.8:c.1539+96G>T ENSP00000290650.4:n.1539+96G>T
ENST00000546274.6:c.1539+96G>T ENSP00000477932.1:n.1539+96G>T
ENST00000563239.1:c.*203-1007G>T ENSP00000456502.1:n.*203-1007G>T
ENST00000569971.5:c.410+96G>T ENSP00000455759.1:n.410+96G>T
NM_174916.2:c.1539+96G>T NP_777576.1:n.1539+96G>T
NM_174916.3:c.1539+96G>T MANE Select NP_777576.1:n.1539+96G>T
Search 100 bp 5'
Search 100 bp 3'