Canonical Allele Identifier: CA3336107

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1491813
• ClinVar RCV Id: RCV001988915
• dbSNP Id: rs775945854
• ExAC: 5:86681120 T / G
• gnomAD v2: 5-86681120-T-G
• gnomAD v4: 5-87385303-T-G
• MyVariant Identifiers: chr5:g.86681120T>G (hg19) ; chr5:g.87385303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385303T>G , CM000667.2:g.87385303T>G	GRCh38
NC_000005.9:g.86681120T>G , CM000667.1:g.86681120T>G	GRCh37
NC_000005.8:g.86716876T>G	NCBI36
NG_011650.1:g.121970T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2761T>G (RASA1) MANE Select	ENSP00000274376.6:p.Ser921Ala
ENST00000645953.1:c.*90+7467A>C (CCNH)	ENSP00000494460.1:n.*90+7467A>C
ENST00000646883.1:c.254+7467A>C (CCNH)
ENST00000274376.10:c.2761T>G (RASA1)	ENSP00000274376.6:p.Ser921Ala
ENST00000456692.6:c.2230T>G (RASA1)	ENSP00000411221.2:p.Ser744Ala
ENST00000506290.1:c.2263T>G (RASA1)	ENSP00000420905.1:p.Ser755Ala
ENST00000512763.5:c.2260T>G (RASA1)	ENSP00000422008.1:p.Ser754Ala
ENST00000515800.6:c.*1286T>G (RASA1)	ENSP00000423395.2:n.*1286T>G
NM_002890.2:c.2761T>G (RASA1)	NP_002881.1:p.Ser921Ala
NM_022650.2:c.2230T>G (RASA1)	NP_072179.1:p.Ser744Ala
XM_011543525.1:c.2674T>G (RASA1)	XP_011541827.1:p.Ser892Ala
XM_011543526.1:c.2761T>G (RASA1)	XP_011541828.1:p.Ser921Ala
NM_001364075.1:c.933+9741A>C (CCNH)	NP_001351004.1:n.933+9741A>C
NR_157068.1:n.1447+7467A>C (CCNH)
NR_157069.1:n.1040+7467A>C (CCNH)
NR_157070.1:n.1204+7467A>C (CCNH)
XM_011543525.2:c.2674T>G (RASA1)	XP_011541827.1:p.Ser892Ala
NM_001364075.2:c.933+9741A>C (CCNH)	NP_001351004.1:n.933+9741A>C
NM_002890.3:c.2761T>G (RASA1) MANE Select	NP_002881.1:p.Ser921Ala
NR_157068.2:n.1447+7467A>C (CCNH)
NR_157069.2:n.1040+7467A>C (CCNH)
NR_157070.2:n.1204+7467A>C (CCNH)
NM_022650.3:c.2230T>G (RASA1)	NP_072179.1:p.Ser744Ala