Canonical Allele Identifier: CA5487654

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299993
• ClinVar RCV Id: RCV000401701 ; RCV000961167 ; RCV003888712
• dbSNP Id: rs75452094
• ExAC: 10:48389951 G / A
• gnomAD v2: 10-48389951-G-A
• gnomAD v3: 10-47349411-C-T
• gnomAD v4: 10-47349411-C-T
• MyVariant Identifiers: chr10:g.48389951G>A (hg19) ; chr10:g.47349411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349411C>T , CM000672.2:g.47349411C>T	GRCh38
NC_000010.10:g.48389951G>A , CM000672.1:g.48389951G>A	GRCh37
NC_000010.9:g.48009957G>A	NCBI36
NG_029718.1:g.6041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.927C>T MANE Select	ENSP00000463151.1:p.Ala309=
ENST00000584701.1:c.927C>T	ENSP00000463151.1:p.Ala309=
NM_002900.2:c.927C>T	NP_002891.1:p.Ala309=
NM_002900.3:c.927C>T MANE Select	NP_002891.1:p.Ala309=