Canonical Allele Identifier: CA269934332
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs569773480
gnomAD v3: 15-42958275-G-C
gnomAD v4: 15-42958275-G-C
MyVariant Identifiers: chr15:g.43250473G>C (hg19) chr15:g.42958275G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958275G>C , CM000677.2:g.42958275G>C GRCh38
NC_000015.9:g.43250473G>C , CM000677.1:g.43250473G>C GRCh37
NC_000015.8:g.41037765G>C NCBI36
NG_012182.1:g.152814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-185C>G MANE Select ENSP00000290650.4:n.4758-185C>G
ENST00000290650.8:c.4758-185C>G ENSP00000290650.4:n.4758-185C>G
NM_174916.2:c.4758-185C>G NP_777576.1:n.4758-185C>G
NM_174916.3:c.4758-185C>G MANE Select NP_777576.1:n.4758-185C>G
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