Canonical Allele Identifier: CA10620945

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 354521
• ClinVar RCV Id: RCV000261406 ; RCV000353985
• dbSNP Id: rs886060840
• MyVariant Identifiers: chr5:g.86670737A>C (hg19) ; chr5:g.87374920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87374920A>C , CM000667.2:g.87374920A>C	GRCh38
NC_000005.9:g.86670737A>C , CM000667.1:g.86670737A>C	GRCh37
NC_000005.8:g.86706493A>C	NCBI36
NG_011650.1:g.111587A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2011+4A>C (RASA1) MANE Select	ENSP00000274376.6:n.2011+4A>C
ENST00000645953.1:c.*90+17850T>G (CCNH)	ENSP00000494460.1:n.*90+17850T>G
ENST00000274376.10:c.2011+4A>C (RASA1)	ENSP00000274376.6:n.2011+4A>C
ENST00000456692.6:c.1480+4A>C (RASA1)	ENSP00000411221.2:n.1480+4A>C
ENST00000506290.1:c.1513+4A>C (RASA1)	ENSP00000420905.1:n.1513+4A>C
ENST00000512763.5:c.1510+4A>C (RASA1)	ENSP00000422008.1:n.1510+4A>C
ENST00000515800.6:c.*536+4A>C (RASA1)	ENSP00000423395.2:n.*536+4A>C
NM_002890.2:c.2011+4A>C (RASA1)	NP_002881.1:n.2011+4A>C
NM_022650.2:c.1480+4A>C (RASA1)	NP_072179.1:n.1480+4A>C
XM_011543525.1:c.2011+4A>C (RASA1)	XP_011541827.1:n.2011+4A>C
XM_011543526.1:c.2011+4A>C (RASA1)	XP_011541828.1:n.2011+4A>C
XR_948544.1:n.742+725T>G
NM_001364075.1:c.933+20124T>G (CCNH)	NP_001351004.1:n.933+20124T>G
NR_157068.1:n.1447+17850T>G (CCNH)
NR_157069.1:n.1040+17850T>G (CCNH)
NR_157070.1:n.1204+17850T>G (CCNH)
XM_011543525.2:c.2011+4A>C (RASA1)	XP_011541827.1:n.2011+4A>C
NM_001364075.2:c.933+20124T>G (CCNH)	NP_001351004.1:n.933+20124T>G
NM_002890.3:c.2011+4A>C (RASA1) MANE Select	NP_002881.1:n.2011+4A>C
NR_157068.2:n.1447+17850T>G (CCNH)
NR_157069.2:n.1040+17850T>G (CCNH)
NR_157070.2:n.1204+17850T>G (CCNH)
NM_022650.3:c.1480+4A>C (RASA1)	NP_072179.1:n.1480+4A>C