Canonical Allele Identifier: CA3335461

Gene: RASA1

Linked Data

• dbSNP Id: rs368130094
• ExAC: 5:86564854 A / G
• gnomAD v2: 5-86564854-A-G
• gnomAD v3: 5-87269037-A-G
• gnomAD v4: 5-87269037-A-G
• MyVariant Identifiers: chr5:g.86564854A>G (hg19) ; chr5:g.87269037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87269037A>G , CM000667.2:g.87269037A>G	GRCh38
NC_000005.9:g.86564854A>G , CM000667.1:g.86564854A>G	GRCh37
NC_000005.8:g.86600610A>G	NCBI36
NG_011650.1:g.5704A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.539+47A>G MANE Select	ENSP00000274376.6:n.539+47A>G
ENST00000274376.10:c.539+47A>G	ENSP00000274376.6:n.539+47A>G
ENST00000456692.6:c.-11A>G	ENSP00000411221.2:n.-11A>G
ENST00000506290.1:c.-24A>G	ENSP00000420905.1:n.-24A>G
ENST00000512763.5:c.-108A>G	ENSP00000422008.1:n.-108A>G
ENST00000515800.6:c.539+47A>G	ENSP00000423395.2:n.539+47A>G
NM_002890.2:c.539+47A>G	NP_002881.1:n.539+47A>G
NM_022650.2:c.-11A>G	NP_072179.1:n.-11A>G
XM_011543525.1:c.539+47A>G	XP_011541827.1:n.539+47A>G
XM_011543526.1:c.539+47A>G	XP_011541828.1:n.539+47A>G
XM_011543527.1:c.539+47A>G	XP_011541829.1:n.539+47A>G
XM_011543525.2:c.539+47A>G	XP_011541827.1:n.539+47A>G
XM_011543527.3:c.539+47A>G	XP_011541829.1:n.539+47A>G
NM_002890.3:c.539+47A>G MANE Select	NP_002881.1:n.539+47A>G
NM_022650.3:c.-11A>G	NP_072179.1:n.-11A>G