Canonical Allele Identifier: CA469782339
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs2132254699
gnomAD v4: 10-47350623-A-C
MyVariant Identifiers: chr10:g.48388739T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350623A>C , CM000672.2:g.47350623A>C GRCh38
NC_000010.10:g.48388739T>G , CM000672.1:g.48388739T>G GRCh37
NC_000010.9:g.48008745T>G NCBI36
NG_029718.1:g.7253A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2139A>C MANE Select ENSP00000463151.1:p.Ala713=
ENST00000584701.1:c.2139A>C ENSP00000463151.1:p.Ala713=
NM_002900.2:c.2139A>C NP_002891.1:p.Ala713=
NM_002900.3:c.2139A>C MANE Select NP_002891.1:p.Ala713=
Search 100 bp 5'
Search 100 bp 3'