Canonical Allele Identifier: CA376670974
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1555211261
gnomAD v2: 10-48389283-C-T
gnomAD v3: 10-47350079-G-A
gnomAD v4: 10-47350079-G-A
MyVariant Identifiers: chr10:g.48389283C>T (hg19) chr10:g.47350079G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350079G>A , CM000672.2:g.47350079G>A GRCh38
NC_000010.10:g.48389283C>T , CM000672.1:g.48389283C>T GRCh37
NC_000010.9:g.48009289C>T NCBI36
NG_029718.1:g.6709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1595G>A MANE Select ENSP00000463151.1:p.Ser532Asn
ENST00000584701.1:c.1595G>A ENSP00000463151.1:p.Ser532Asn
NM_002900.2:c.1595G>A NP_002891.1:p.Ser532Asn
NM_002900.3:c.1595G>A MANE Select NP_002891.1:p.Ser532Asn
Search 100 bp 5'
Search 100 bp 3'