Canonical Allele Identifier: CA360417346

Gene: RASA1

Linked Data

• ClinVar Variation Id: 1996158
• ClinVar RCV Id: RCV002801849
• MyVariant Identifiers: chr5:g.86564683C>G (hg19) ; chr5:g.87268866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268866C>G , CM000667.2:g.87268866C>G	GRCh38
NC_000005.9:g.86564683C>G , CM000667.1:g.86564683C>G	GRCh37
NC_000005.8:g.86600439C>G	NCBI36
NG_011650.1:g.5533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.415C>G MANE Select	ENSP00000274376.6:p.Pro139Ala
ENST00000274376.10:c.415C>G	ENSP00000274376.6:p.Pro139Ala
ENST00000515800.6:c.415C>G	ENSP00000423395.2:p.Pro139Ala
NM_002890.2:c.415C>G	NP_002881.1:p.Pro139Ala
XM_011543525.1:c.415C>G	XP_011541827.1:p.Pro139Ala
XM_011543526.1:c.415C>G	XP_011541828.1:p.Pro139Ala
XM_011543527.1:c.415C>G	XP_011541829.1:p.Pro139Ala
XM_011543525.2:c.415C>G	XP_011541827.1:p.Pro139Ala
XM_011543527.3:c.415C>G	XP_011541829.1:p.Pro139Ala
NM_002890.3:c.415C>G MANE Select	NP_002881.1:p.Pro139Ala