Canonical Allele Identifier: CA376671117
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs534717081
gnomAD v2: 10-48389237-C-A
gnomAD v4: 10-47350125-G-T
MyVariant Identifiers: chr10:g.48389237C>A (hg19) chr10:g.47350125G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350125G>T , CM000672.2:g.47350125G>T GRCh38
NC_000010.10:g.48389237C>A , CM000672.1:g.48389237C>A GRCh37
NC_000010.9:g.48009243C>A NCBI36
NG_029718.1:g.6755G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1641G>T MANE Select ENSP00000463151.1:p.Thr547=
ENST00000584701.1:c.1641G>T ENSP00000463151.1:p.Thr547=
NM_002900.2:c.1641G>T NP_002891.1:p.Thr547=
NM_002900.3:c.1641G>T MANE Select NP_002891.1:p.Thr547=
Search 100 bp 5'
Search 100 bp 3'