Canonical Allele Identifier: CA360417195

Gene: RASA1

Linked Data

• ClinVar Variation Id: 2723152
• ClinVar RCV Id: RCV003595360
• dbSNP Id: rs1422855651
• gnomAD v2: 5-86564603-G-C
• gnomAD v4: 5-87268786-G-C
• MyVariant Identifiers: chr5:g.86564603G>C (hg19) ; chr5:g.87268786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268786G>C , CM000667.2:g.87268786G>C	GRCh38
NC_000005.9:g.86564603G>C , CM000667.1:g.86564603G>C	GRCh37
NC_000005.8:g.86600359G>C	NCBI36
NG_011650.1:g.5453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.335G>C MANE Select	ENSP00000274376.6:p.Gly112Ala
ENST00000274376.10:c.335G>C	ENSP00000274376.6:p.Gly112Ala
ENST00000515800.6:c.335G>C	ENSP00000423395.2:p.Gly112Ala
NM_002890.2:c.335G>C	NP_002881.1:p.Gly112Ala
XM_011543525.1:c.335G>C	XP_011541827.1:p.Gly112Ala
XM_011543526.1:c.335G>C	XP_011541828.1:p.Gly112Ala
XM_011543527.1:c.335G>C	XP_011541829.1:p.Gly112Ala
XM_011543525.2:c.335G>C	XP_011541827.1:p.Gly112Ala
XM_011543527.3:c.335G>C	XP_011541829.1:p.Gly112Ala
NM_002890.3:c.335G>C MANE Select	NP_002881.1:p.Gly112Ala