Canonical Allele Identifier: CA5487480

Gene: RBP3

Linked Data

• ClinVar Variation Id: 1009970
• ClinVar RCV Id: RCV001307536
• dbSNP Id: rs782164621
• ExAC: 10:48389265 T / C
• gnomAD v2: 10-48389265-T-C
• gnomAD v3: 10-47350097-A-G
• gnomAD v4: 10-47350097-A-G
• MyVariant Identifiers: chr10:g.48389265T>C (hg19) ; chr10:g.47350097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350097A>G , CM000672.2:g.47350097A>G	GRCh38
NC_000010.10:g.48389265T>C , CM000672.1:g.48389265T>C	GRCh37
NC_000010.9:g.48009271T>C	NCBI36
NG_029718.1:g.6727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1613A>G MANE Select	ENSP00000463151.1:p.Tyr538Cys
ENST00000584701.1:c.1613A>G	ENSP00000463151.1:p.Tyr538Cys
NM_002900.2:c.1613A>G	NP_002891.1:p.Tyr538Cys
NM_002900.3:c.1613A>G MANE Select	NP_002891.1:p.Tyr538Cys