Canonical Allele Identifier: CA376672050
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1836952257
gnomAD v4: 10-47350573-C-T
MyVariant Identifiers: chr10:g.48388789G>A (hg19) chr10:g.47350573C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350573C>T , CM000672.2:g.47350573C>T GRCh38
NC_000010.10:g.48388789G>A , CM000672.1:g.48388789G>A GRCh37
NC_000010.9:g.48008795G>A NCBI36
NG_029718.1:g.7203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2089C>T MANE Select ENSP00000463151.1:p.His697Tyr
ENST00000584701.1:c.2089C>T ENSP00000463151.1:p.His697Tyr
NM_002900.2:c.2089C>T NP_002891.1:p.His697Tyr
NM_002900.3:c.2089C>T MANE Select NP_002891.1:p.His697Tyr
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