Canonical Allele Identifier: CA376671516
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1249909248
gnomAD v3: 10-47350287-T-A
gnomAD v4: 10-47350287-T-A
MyVariant Identifiers: chr10:g.48389075A>T (hg19) chr10:g.47350287T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350287T>A , CM000672.2:g.47350287T>A GRCh38
NC_000010.10:g.48389075A>T , CM000672.1:g.48389075A>T GRCh37
NC_000010.9:g.48009081A>T NCBI36
NG_029718.1:g.6917T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1803T>A MANE Select ENSP00000463151.1:p.Asn601Lys
ENST00000584701.1:c.1803T>A ENSP00000463151.1:p.Asn601Lys
NM_002900.2:c.1803T>A NP_002891.1:p.Asn601Lys
NM_002900.3:c.1803T>A MANE Select NP_002891.1:p.Asn601Lys
Search 100 bp 5'
Search 100 bp 3'