Canonical Allele Identifier: CA360417214

Gene: RASA1

Linked Data

• ClinVar Variation Id: 1352235
• ClinVar RCV Id: RCV002047446
• dbSNP Id: rs576329276
• gnomAD v2: 5-86564612-C-G
• gnomAD v4: 5-87268795-C-G
• MyVariant Identifiers: chr5:g.86564612C>G (hg19) ; chr5:g.87268795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268795C>G , CM000667.2:g.87268795C>G	GRCh38
NC_000005.9:g.86564612C>G , CM000667.1:g.86564612C>G	GRCh37
NC_000005.8:g.86600368C>G	NCBI36
NG_011650.1:g.5462C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.344C>G MANE Select	ENSP00000274376.6:p.Ala115Gly
ENST00000274376.10:c.344C>G	ENSP00000274376.6:p.Ala115Gly
ENST00000515800.6:c.344C>G	ENSP00000423395.2:p.Ala115Gly
NM_002890.2:c.344C>G	NP_002881.1:p.Ala115Gly
XM_011543525.1:c.344C>G	XP_011541827.1:p.Ala115Gly
XM_011543526.1:c.344C>G	XP_011541828.1:p.Ala115Gly
XM_011543527.1:c.344C>G	XP_011541829.1:p.Ala115Gly
XM_011543525.2:c.344C>G	XP_011541827.1:p.Ala115Gly
XM_011543527.3:c.344C>G	XP_011541829.1:p.Ala115Gly
NM_002890.3:c.344C>G MANE Select	NP_002881.1:p.Ala115Gly