Canonical Allele Identifier: CA269943698
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs201386354
gnomAD v3: 15-43067930-C-A
gnomAD v4: 15-43067930-C-A
MyVariant Identifiers: chr15:g.43360128C>A (hg19) chr15:g.43067930C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067930C>A , CM000677.2:g.43067930C>A GRCh38
NC_000015.9:g.43360128C>A , CM000677.1:g.43360128C>A GRCh37
NC_000015.8:g.41147420C>A NCBI36
NG_012182.1:g.43159G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.766G>T MANE Select ENSP00000290650.4:p.Ala256Ser
ENST00000290650.8:c.766G>T ENSP00000290650.4:p.Ala256Ser
ENST00000546274.6:c.766G>T ENSP00000477932.1:p.Ala256Ser
ENST00000563239.1:c.*202+2969G>T ENSP00000456502.1:n.*202+2969G>T
NM_174916.2:c.766G>T NP_777576.1:p.Ala256Ser
NM_174916.3:c.766G>T MANE Select NP_777576.1:p.Ala256Ser
Search 100 bp 5'
Search 100 bp 3'