Canonical Allele Identifier: CA712959483
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1037317128
gnomAD v4: 15-43048326-A-T
MyVariant Identifiers: chr15:g.43340524A>T (hg19) chr15:g.43048326A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048326A>T , CM000677.2:g.43048326A>T GRCh38
NC_000015.9:g.43340524A>T , CM000677.1:g.43340524A>T GRCh37
NC_000015.8:g.41127816A>T NCBI36
NG_012182.1:g.62763T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+66T>A MANE Select ENSP00000290650.4:n.1539+66T>A
ENST00000290650.8:c.1539+66T>A ENSP00000290650.4:n.1539+66T>A
ENST00000546274.6:c.1539+66T>A ENSP00000477932.1:n.1539+66T>A
ENST00000563239.1:c.*203-1037T>A ENSP00000456502.1:n.*203-1037T>A
ENST00000569971.5:c.410+66T>A ENSP00000455759.1:n.410+66T>A
NM_174916.2:c.1539+66T>A NP_777576.1:n.1539+66T>A
NM_174916.3:c.1539+66T>A MANE Select NP_777576.1:n.1539+66T>A
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