Canonical Allele Identifier: CA360417418

Gene: RASA1

Linked Data

• ClinVar Variation Id: 1396821
• ClinVar RCV Id: RCV001903191
• dbSNP Id: rs1753696601
• gnomAD v4: 5-87268905-A-G
• MyVariant Identifiers: chr5:g.86564722A>G (hg19) ; chr5:g.87268905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268905A>G , CM000667.2:g.87268905A>G	GRCh38
NC_000005.9:g.86564722A>G , CM000667.1:g.86564722A>G	GRCh37
NC_000005.8:g.86600478A>G	NCBI36
NG_011650.1:g.5572A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.454A>G MANE Select	ENSP00000274376.6:p.Thr152Ala
ENST00000274376.10:c.454A>G	ENSP00000274376.6:p.Thr152Ala
ENST00000515800.6:c.454A>G	ENSP00000423395.2:p.Thr152Ala
NM_002890.2:c.454A>G	NP_002881.1:p.Thr152Ala
XM_011543525.1:c.454A>G	XP_011541827.1:p.Thr152Ala
XM_011543526.1:c.454A>G	XP_011541828.1:p.Thr152Ala
XM_011543527.1:c.454A>G	XP_011541829.1:p.Thr152Ala
XM_011543525.2:c.454A>G	XP_011541827.1:p.Thr152Ala
XM_011543527.3:c.454A>G	XP_011541829.1:p.Thr152Ala
NM_002890.3:c.454A>G MANE Select	NP_002881.1:p.Thr152Ala