Canonical Allele Identifier: CA3336105

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2735290
• ClinVar RCV Id: RCV003593373
• dbSNP Id: rs759883031
• ExAC: 5:86681113 T / G
• gnomAD v2: 5-86681113-T-G
• gnomAD v3: 5-87385296-T-G
• gnomAD v4: 5-87385296-T-G
• MyVariant Identifiers: chr5:g.86681113T>G (hg19) ; chr5:g.87385296T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385296T>G , CM000667.2:g.87385296T>G	GRCh38
NC_000005.9:g.86681113T>G , CM000667.1:g.86681113T>G	GRCh37
NC_000005.8:g.86716869T>G	NCBI36
NG_011650.1:g.121963T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2759-5T>G (RASA1) MANE Select	ENSP00000274376.6:n.2759-5T>G
ENST00000645953.1:c.*90+7474A>C (CCNH)	ENSP00000494460.1:n.*90+7474A>C
ENST00000646883.1:c.254+7474A>C (CCNH)
ENST00000274376.10:c.2759-5T>G (RASA1)	ENSP00000274376.6:n.2759-5T>G
ENST00000456692.6:c.2228-5T>G (RASA1)	ENSP00000411221.2:n.2228-5T>G
ENST00000506290.1:c.2261-5T>G (RASA1)	ENSP00000420905.1:n.2261-5T>G
ENST00000512763.5:c.2258-5T>G (RASA1)	ENSP00000422008.1:n.2258-5T>G
ENST00000515800.6:c.*1284-5T>G (RASA1)	ENSP00000423395.2:n.*1284-5T>G
NM_002890.2:c.2759-5T>G (RASA1)	NP_002881.1:n.2759-5T>G
NM_022650.2:c.2228-5T>G (RASA1)	NP_072179.1:n.2228-5T>G
XM_011543525.1:c.2672-5T>G (RASA1)	XP_011541827.1:n.2672-5T>G
XM_011543526.1:c.2759-5T>G (RASA1)	XP_011541828.1:n.2759-5T>G
NM_001364075.1:c.933+9748A>C (CCNH)	NP_001351004.1:n.933+9748A>C
NR_157068.1:n.1447+7474A>C (CCNH)
NR_157069.1:n.1040+7474A>C (CCNH)
NR_157070.1:n.1204+7474A>C (CCNH)
XM_011543525.2:c.2672-5T>G (RASA1)	XP_011541827.1:n.2672-5T>G
NM_001364075.2:c.933+9748A>C (CCNH)	NP_001351004.1:n.933+9748A>C
NM_002890.3:c.2759-5T>G (RASA1) MANE Select	NP_002881.1:n.2759-5T>G
NR_157068.2:n.1447+7474A>C (CCNH)
NR_157069.2:n.1040+7474A>C (CCNH)
NR_157070.2:n.1204+7474A>C (CCNH)
NM_022650.3:c.2228-5T>G (RASA1)	NP_072179.1:n.2228-5T>G