Canonical Allele Identifier: CA712976931
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1475631030
gnomAD v4: 15-42958010-T-C
MyVariant Identifiers: chr15:g.43250208T>C (hg19) chr15:g.42958010T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958010T>C , CM000677.2:g.42958010T>C GRCh38
NC_000015.9:g.43250208T>C , CM000677.1:g.43250208T>C GRCh37
NC_000015.8:g.41037500T>C NCBI36
NG_012182.1:g.153079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4835+3A>G MANE Select ENSP00000290650.4:n.4835+3A>G
ENST00000290650.8:c.4835+3A>G ENSP00000290650.4:n.4835+3A>G
NM_174916.2:c.4835+3A>G NP_777576.1:n.4835+3A>G
NM_174916.3:c.4835+3A>G MANE Select NP_777576.1:n.4835+3A>G
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