Canonical Allele Identifier: CA617631819
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1487523991
gnomAD v2: 15-43250326-A-G
gnomAD v4: 15-42958128-A-G
MyVariant Identifiers: chr15:g.43250326A>G (hg19) chr15:g.42958128A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958128A>G , CM000677.2:g.42958128A>G GRCh38
NC_000015.9:g.43250326A>G , CM000677.1:g.43250326A>G GRCh37
NC_000015.8:g.41037618A>G NCBI36
NG_012182.1:g.152961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-38T>C MANE Select ENSP00000290650.4:n.4758-38T>C
ENST00000290650.8:c.4758-38T>C ENSP00000290650.4:n.4758-38T>C
NM_174916.2:c.4758-38T>C NP_777576.1:n.4758-38T>C
NM_174916.3:c.4758-38T>C MANE Select NP_777576.1:n.4758-38T>C
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