Canonical Allele Identifier: CA360417403

Gene: RASA1

Linked Data

• ClinVar Variation Id: 2453891
• ClinVar RCV Id: RCV003188026
• dbSNP Id: rs1203273145
• gnomAD v2: 5-86564714-G-A
• gnomAD v4: 5-87268897-G-A
• MyVariant Identifiers: chr5:g.86564714G>A (hg19) ; chr5:g.87268897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268897G>A , CM000667.2:g.87268897G>A	GRCh38
NC_000005.9:g.86564714G>A , CM000667.1:g.86564714G>A	GRCh37
NC_000005.8:g.86600470G>A	NCBI36
NG_011650.1:g.5564G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.446G>A MANE Select	ENSP00000274376.6:p.Gly149Asp
ENST00000274376.10:c.446G>A	ENSP00000274376.6:p.Gly149Asp
ENST00000515800.6:c.446G>A	ENSP00000423395.2:p.Gly149Asp
NM_002890.2:c.446G>A	NP_002881.1:p.Gly149Asp
XM_011543525.1:c.446G>A	XP_011541827.1:p.Gly149Asp
XM_011543526.1:c.446G>A	XP_011541828.1:p.Gly149Asp
XM_011543527.1:c.446G>A	XP_011541829.1:p.Gly149Asp
XM_011543525.2:c.446G>A	XP_011541827.1:p.Gly149Asp
XM_011543527.3:c.446G>A	XP_011541829.1:p.Gly149Asp
NM_002890.3:c.446G>A MANE Select	NP_002881.1:p.Gly149Asp