Canonical Allele Identifier: CA3335441

Gene: RASA1

Linked Data

• ClinVar Variation Id: 1367977
• ClinVar RCV Id: RCV001874300 ; RCV002334768
• dbSNP Id: rs780636400
• ExAC: 5:86564740 T / C
• gnomAD v2: 5-86564740-T-C
• gnomAD v3: 5-87268923-T-C
• gnomAD v4: 5-87268923-T-C
• MyVariant Identifiers: chr5:g.86564740T>C (hg19) ; chr5:g.87268923T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268923T>C , CM000667.2:g.87268923T>C	GRCh38
NC_000005.9:g.86564740T>C , CM000667.1:g.86564740T>C	GRCh37
NC_000005.8:g.86600496T>C	NCBI36
NG_011650.1:g.5590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.472T>C MANE Select	ENSP00000274376.6:p.Ser158Pro
ENST00000274376.10:c.472T>C	ENSP00000274376.6:p.Ser158Pro
ENST00000515800.6:c.472T>C	ENSP00000423395.2:p.Ser158Pro
NM_002890.2:c.472T>C	NP_002881.1:p.Ser158Pro
XM_011543525.1:c.472T>C	XP_011541827.1:p.Ser158Pro
XM_011543526.1:c.472T>C	XP_011541828.1:p.Ser158Pro
XM_011543527.1:c.472T>C	XP_011541829.1:p.Ser158Pro
XM_011543525.2:c.472T>C	XP_011541827.1:p.Ser158Pro
XM_011543527.3:c.472T>C	XP_011541829.1:p.Ser158Pro
NM_002890.3:c.472T>C MANE Select	NP_002881.1:p.Ser158Pro