Canonical Allele Identifier: CA376669731
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1391337230
gnomAD v3: 10-47349905-T-A
gnomAD v4: 10-47349905-T-A
MyVariant Identifiers: chr10:g.48389457A>T (hg19) chr10:g.47349905T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349905T>A , CM000672.2:g.47349905T>A GRCh38
NC_000010.10:g.48389457A>T , CM000672.1:g.48389457A>T GRCh37
NC_000010.9:g.48009463A>T NCBI36
NG_029718.1:g.6535T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1421T>A MANE Select ENSP00000463151.1:p.Leu474His
ENST00000584701.1:c.1421T>A ENSP00000463151.1:p.Leu474His
NM_002900.2:c.1421T>A NP_002891.1:p.Leu474His
NM_002900.3:c.1421T>A MANE Select NP_002891.1:p.Leu474His
Search 100 bp 5'
Search 100 bp 3'