Canonical Allele Identifier: CA360365144

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 939363
• ClinVar RCV Id: RCV001208753
• dbSNP Id: rs1759407260
• MyVariant Identifiers: chr5:g.86649018A>C (hg19) ; chr5:g.87353201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353201A>C , CM000667.2:g.87353201A>C	GRCh38
NC_000005.9:g.86649018A>C , CM000667.1:g.86649018A>C	GRCh37
NC_000005.8:g.86684774A>C	NCBI36
NG_011650.1:g.89868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1298A>C (RASA1) MANE Select	ENSP00000274376.6:p.Glu433Ala
ENST00000645953.1:c.*91-34304T>G (CCNH)	ENSP00000494460.1:n.*91-34304T>G
ENST00000274376.10:c.1298A>C (RASA1)	ENSP00000274376.6:p.Glu433Ala
ENST00000456692.6:c.767A>C (RASA1)	ENSP00000411221.2:p.Glu256Ala
ENST00000506290.1:c.800A>C (RASA1)	ENSP00000420905.1:p.Glu267Ala
ENST00000509953.1:n.401A>C (RASA1)
ENST00000512763.5:c.797A>C (RASA1)	ENSP00000422008.1:p.Glu266Ala
ENST00000515800.6:c.1298A>C (RASA1)	ENSP00000423395.2:p.Glu433Ala
NM_002890.2:c.1298A>C (RASA1)	NP_002881.1:p.Glu433Ala
NM_022650.2:c.767A>C (RASA1)	NP_072179.1:p.Glu256Ala
XM_011543525.1:c.1298A>C (RASA1)	XP_011541827.1:p.Glu433Ala
XM_011543526.1:c.1298A>C (RASA1)	XP_011541828.1:p.Glu433Ala
XM_011543527.1:c.1298A>C (RASA1)	XP_011541829.1:p.Glu433Ala
NM_001364075.1:c.934-40406T>G (CCNH)	NP_001351004.1:n.934-40406T>G
NR_157068.1:n.1447+39569T>G (CCNH)
NR_157069.1:n.1040+39569T>G (CCNH)
NR_157070.1:n.1204+39569T>G (CCNH)
XM_011543525.2:c.1298A>C (RASA1)	XP_011541827.1:p.Glu433Ala
XM_011543527.3:c.1298A>C (RASA1)	XP_011541829.1:p.Glu433Ala
NM_001364075.2:c.934-40406T>G (CCNH)	NP_001351004.1:n.934-40406T>G
NM_002890.3:c.1298A>C (RASA1) MANE Select	NP_002881.1:p.Glu433Ala
NR_157068.2:n.1447+39569T>G (CCNH)
NR_157069.2:n.1040+39569T>G (CCNH)
NR_157070.2:n.1204+39569T>G (CCNH)
NM_022650.3:c.767A>C (RASA1)	NP_072179.1:p.Glu256Ala