Canonical Allele Identifier: CA360417450

Gene: RASA1

Linked Data

• ClinVar Variation Id: 2798625
• ClinVar RCV Id: RCV003760640
• MyVariant Identifiers: chr5:g.86564737G>A (hg19) ; chr5:g.87268920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268920G>A , CM000667.2:g.87268920G>A	GRCh38
NC_000005.9:g.86564737G>A , CM000667.1:g.86564737G>A	GRCh37
NC_000005.8:g.86600493G>A	NCBI36
NG_011650.1:g.5587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.469G>A MANE Select	ENSP00000274376.6:p.Asp157Asn
ENST00000274376.10:c.469G>A	ENSP00000274376.6:p.Asp157Asn
ENST00000515800.6:c.469G>A	ENSP00000423395.2:p.Asp157Asn
NM_002890.2:c.469G>A	NP_002881.1:p.Asp157Asn
XM_011543525.1:c.469G>A	XP_011541827.1:p.Asp157Asn
XM_011543526.1:c.469G>A	XP_011541828.1:p.Asp157Asn
XM_011543527.1:c.469G>A	XP_011541829.1:p.Asp157Asn
XM_011543525.2:c.469G>A	XP_011541827.1:p.Asp157Asn
XM_011543527.3:c.469G>A	XP_011541829.1:p.Asp157Asn
NM_002890.3:c.469G>A MANE Select	NP_002881.1:p.Asp157Asn