Canonical Allele Identifier: CA360383639

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1486838
• ClinVar RCV Id: RCV002033402
• dbSNP Id: rs1445029428
• gnomAD v2: 5-86675568-T-C
• gnomAD v4: 5-87379751-T-C
• MyVariant Identifiers: chr5:g.86675568T>C (hg19) ; chr5:g.87379751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379751T>C , CM000667.2:g.87379751T>C	GRCh38
NC_000005.9:g.86675568T>C , CM000667.1:g.86675568T>C	GRCh37
NC_000005.8:g.86711324T>C	NCBI36
NG_011650.1:g.116418T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2504T>C (RASA1) MANE Select	ENSP00000274376.6:p.Leu835Ser
ENST00000645953.1:c.*90+13019A>G (CCNH)	ENSP00000494460.1:n.*90+13019A>G
ENST00000646883.1:c.255-3233A>G (CCNH)
ENST00000274376.10:c.2504T>C (RASA1)	ENSP00000274376.6:p.Leu835Ser
ENST00000456692.6:c.1973T>C (RASA1)	ENSP00000411221.2:p.Leu658Ser
ENST00000506290.1:c.2006T>C (RASA1)	ENSP00000420905.1:p.Leu669Ser
ENST00000512763.5:c.2003T>C (RASA1)	ENSP00000422008.1:p.Leu668Ser
ENST00000515800.6:c.*1029T>C (RASA1)	ENSP00000423395.2:n.*1029T>C
NM_002890.2:c.2504T>C (RASA1)	NP_002881.1:p.Leu835Ser
NM_022650.2:c.1973T>C (RASA1)	NP_072179.1:p.Leu658Ser
XM_011543525.1:c.2504T>C (RASA1)	XP_011541827.1:p.Leu835Ser
XM_011543526.1:c.2504T>C (RASA1)	XP_011541828.1:p.Leu835Ser
NM_001364075.1:c.933+15293A>G (CCNH)	NP_001351004.1:n.933+15293A>G
NR_157068.1:n.1447+13019A>G (CCNH)
NR_157069.1:n.1040+13019A>G (CCNH)
NR_157070.1:n.1204+13019A>G (CCNH)
XM_011543525.2:c.2504T>C (RASA1)	XP_011541827.1:p.Leu835Ser
NM_001364075.2:c.933+15293A>G (CCNH)	NP_001351004.1:n.933+15293A>G
NM_002890.3:c.2504T>C (RASA1) MANE Select	NP_002881.1:p.Leu835Ser
NR_157068.2:n.1447+13019A>G (CCNH)
NR_157069.2:n.1040+13019A>G (CCNH)
NR_157070.2:n.1204+13019A>G (CCNH)
NM_022650.3:c.1973T>C (RASA1)	NP_072179.1:p.Leu658Ser