Canonical Allele Identifier: CA376670972

Gene: RBP3

Linked Data

• gnomAD v4: 10-47350078-A-G
• MyVariant Identifiers: chr10:g.48389284T>C (hg19) ; chr10:g.47350078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350078A>G , CM000672.2:g.47350078A>G	GRCh38
NC_000010.10:g.48389284T>C , CM000672.1:g.48389284T>C	GRCh37
NC_000010.9:g.48009290T>C	NCBI36
NG_029718.1:g.6708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1594A>G MANE Select	ENSP00000463151.1:p.Ser532Gly
ENST00000584701.1:c.1594A>G	ENSP00000463151.1:p.Ser532Gly
NM_002900.2:c.1594A>G	NP_002891.1:p.Ser532Gly
NM_002900.3:c.1594A>G MANE Select	NP_002891.1:p.Ser532Gly