Canonical Allele Identifier: CA445402348
Gene: RASA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1654140
ClinVar RCV Id: RCV002163735
dbSNP Id: rs1753694457
gnomAD v4: 5-87268880-G-A
MyVariant Identifiers: chr5:g.86564697G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268880G>A , CM000667.2:g.87268880G>A GRCh38
NC_000005.9:g.86564697G>A , CM000667.1:g.86564697G>A GRCh37
NC_000005.8:g.86600453G>A NCBI36
NG_011650.1:g.5547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.429G>A MANE Select ENSP00000274376.6:p.Leu143=
ENST00000274376.10:c.429G>A ENSP00000274376.6:p.Leu143=
ENST00000515800.6:c.429G>A ENSP00000423395.2:p.Leu143=
NM_002890.2:c.429G>A NP_002881.1:p.Leu143=
XM_011543525.1:c.429G>A XP_011541827.1:p.Leu143=
XM_011543526.1:c.429G>A XP_011541828.1:p.Leu143=
XM_011543527.1:c.429G>A XP_011541829.1:p.Leu143=
XM_011543525.2:c.429G>A XP_011541827.1:p.Leu143=
XM_011543527.3:c.429G>A XP_011541829.1:p.Leu143=
NM_002890.3:c.429G>A MANE Select NP_002881.1:p.Leu143=