Canonical Allele Identifier: CA376671290
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1221392637
gnomAD v2: 10-48389190-G-A
gnomAD v4: 10-47350172-C-T
MyVariant Identifiers: chr10:g.48389190G>A (hg19) chr10:g.47350172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350172C>T , CM000672.2:g.47350172C>T GRCh38
NC_000010.10:g.48389190G>A , CM000672.1:g.48389190G>A GRCh37
NC_000010.9:g.48009196G>A NCBI36
NG_029718.1:g.6802C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000584701.2:c.1688C>T MANE Select ENSP00000463151.1:p.Thr563Ile
ENST00000584701.1:c.1688C>T ENSP00000463151.1:p.Thr563Ile
NM_002900.2:c.1688C>T NP_002891.1:p.Thr563Ile
NM_002900.3:c.1688C>T MANE Select NP_002891.1:p.Thr563Ile
Search 100 bp 5'
Search 100 bp 3'