Canonical Allele Identifier: CA360417610

Gene: RASA1

Linked Data

• dbSNP Id: rs1373715391
• gnomAD v2: 5-86564865-A-G
• gnomAD v4: 5-87269048-A-G
• MyVariant Identifiers: chr5:g.86564865A>G (hg19) ; chr5:g.87269048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87269048A>G , CM000667.2:g.87269048A>G	GRCh38
NC_000005.9:g.86564865A>G , CM000667.1:g.86564865A>G	GRCh37
NC_000005.8:g.86600621A>G	NCBI36
NG_011650.1:g.5715A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.539+58A>G MANE Select	ENSP00000274376.6:n.539+58A>G
ENST00000274376.10:c.539+58A>G	ENSP00000274376.6:n.539+58A>G
ENST00000456692.6:c.1A>G	ENSP00000411221.2:p.Met1Val
ENST00000506290.1:c.-13A>G	ENSP00000420905.1:n.-13A>G
ENST00000512763.5:c.-97A>G	ENSP00000422008.1:n.-97A>G
ENST00000515800.6:c.539+58A>G	ENSP00000423395.2:n.539+58A>G
NM_002890.2:c.539+58A>G	NP_002881.1:n.539+58A>G
NM_022650.2:c.1A>G	NP_072179.1:p.Met1Val
XM_011543525.1:c.539+58A>G	XP_011541827.1:n.539+58A>G
XM_011543526.1:c.539+58A>G	XP_011541828.1:n.539+58A>G
XM_011543527.1:c.539+58A>G	XP_011541829.1:n.539+58A>G
XM_011543525.2:c.539+58A>G	XP_011541827.1:n.539+58A>G
XM_011543527.3:c.539+58A>G	XP_011541829.1:n.539+58A>G
NM_002890.3:c.539+58A>G MANE Select	NP_002881.1:n.539+58A>G
NM_022650.3:c.1A>G	NP_072179.1:p.Met1Val