Canonical Allele Identifier: CA9357532

Gene: RGS9BP NUDT19

Linked Data

• ClinVar Variation Id: 522947
• ClinVar RCV Id: RCV000626144 ; RCV001701422
• dbSNP Id: rs749927570
• ExAC: 19:33167534 C / G
• gnomAD v2: 19-33167534-C-G
• gnomAD v3: 19-32676628-C-G
• gnomAD v4: 19-32676628-C-G
• MyVariant Identifiers: chr19:g.33167534C>G (hg19) ; chr19:g.32676628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32676628C>G , CM000681.2:g.32676628C>G	GRCh38
NC_000019.9:g.33167534C>G , CM000681.1:g.33167534C>G	GRCh37
NC_000019.8:g.37859374C>G	NCBI36
NG_016751.1:g.6222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334176.4:c.365C>G (RGS9BP) MANE Select	ENSP00000334134.3:p.Ser122Cys
ENST00000334176.3:c.365C>G (RGS9BP)	ENSP00000334134.3:p.Ser122Cys
NM_207391.2:c.365C>G (RGS9BP)	NP_997274.2:p.Ser122Cys
XM_005258925.3:c.192+3155C>G (NUDT19)	XP_005258982.1:n.192+3155C>G
NM_207391.3:c.365C>G (RGS9BP) MANE Select	NP_997274.2:p.Ser122Cys