Canonical Allele Identifier: CA3335425

Gene: RASA1

Linked Data

• ClinVar Variation Id: 644113
• ClinVar RCV Id: RCV002234315 ; RCV002332606
• dbSNP Id: rs775315018
• ExAC: 5:86564680 C / T
• gnomAD v2: 5-86564680-C-T
• gnomAD v3: 5-87268863-C-T
• gnomAD v4: 5-87268863-C-T
• MyVariant Identifiers: chr5:g.86564680C>T (hg19) ; chr5:g.87268863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87268863C>T , CM000667.2:g.87268863C>T	GRCh38
NC_000005.9:g.86564680C>T , CM000667.1:g.86564680C>T	GRCh37
NC_000005.8:g.86600436C>T	NCBI36
NG_011650.1:g.5530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.412C>T MANE Select	ENSP00000274376.6:p.Pro138Ser
ENST00000274376.10:c.412C>T	ENSP00000274376.6:p.Pro138Ser
ENST00000515800.6:c.412C>T	ENSP00000423395.2:p.Pro138Ser
NM_002890.2:c.412C>T	NP_002881.1:p.Pro138Ser
XM_011543525.1:c.412C>T	XP_011541827.1:p.Pro138Ser
XM_011543526.1:c.412C>T	XP_011541828.1:p.Pro138Ser
XM_011543527.1:c.412C>T	XP_011541829.1:p.Pro138Ser
XM_011543525.2:c.412C>T	XP_011541827.1:p.Pro138Ser
XM_011543527.3:c.412C>T	XP_011541829.1:p.Pro138Ser
NM_002890.3:c.412C>T MANE Select	NP_002881.1:p.Pro138Ser