Canonical Allele Identifier: CA121792851

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2161949
• ClinVar RCV Id: RCV003089758
• dbSNP Id: rs952699191
• gnomAD v2: 5-86649047-A-G
• gnomAD v3: 5-87353230-A-G
• gnomAD v4: 5-87353230-A-G
• MyVariant Identifiers: chr5:g.86649047A>G (hg19) ; chr5:g.87353230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353230A>G , CM000667.2:g.87353230A>G	GRCh38
NC_000005.9:g.86649047A>G , CM000667.1:g.86649047A>G	GRCh37
NC_000005.8:g.86684803A>G	NCBI36
NG_011650.1:g.89897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1327A>G (RASA1) MANE Select	ENSP00000274376.6:p.Met443Val
ENST00000645953.1:c.*91-34333T>C (CCNH)	ENSP00000494460.1:n.*91-34333T>C
ENST00000274376.10:c.1327A>G (RASA1)	ENSP00000274376.6:p.Met443Val
ENST00000456692.6:c.796A>G (RASA1)	ENSP00000411221.2:p.Met266Val
ENST00000506290.1:c.829A>G (RASA1)	ENSP00000420905.1:p.Met277Val
ENST00000509953.1:n.430A>G (RASA1)
ENST00000512763.5:c.826A>G (RASA1)	ENSP00000422008.1:p.Met276Val
ENST00000515800.6:c.1327A>G (RASA1)	ENSP00000423395.2:p.Met443Val
NM_002890.2:c.1327A>G (RASA1)	NP_002881.1:p.Met443Val
NM_022650.2:c.796A>G (RASA1)	NP_072179.1:p.Met266Val
XM_011543525.1:c.1327A>G (RASA1)	XP_011541827.1:p.Met443Val
XM_011543526.1:c.1327A>G (RASA1)	XP_011541828.1:p.Met443Val
XM_011543527.1:c.1327A>G (RASA1)	XP_011541829.1:p.Met443Val
NM_001364075.1:c.934-40435T>C (CCNH)	NP_001351004.1:n.934-40435T>C
NR_157068.1:n.1447+39540T>C (CCNH)
NR_157069.1:n.1040+39540T>C (CCNH)
NR_157070.1:n.1204+39540T>C (CCNH)
XM_011543525.2:c.1327A>G (RASA1)	XP_011541827.1:p.Met443Val
XM_011543527.3:c.1327A>G (RASA1)	XP_011541829.1:p.Met443Val
NM_001364075.2:c.934-40435T>C (CCNH)	NP_001351004.1:n.934-40435T>C
NM_002890.3:c.1327A>G (RASA1) MANE Select	NP_002881.1:p.Met443Val
NR_157068.2:n.1447+39540T>C (CCNH)
NR_157069.2:n.1040+39540T>C (CCNH)
NR_157070.2:n.1204+39540T>C (CCNH)
NM_022650.3:c.796A>G (RASA1)	NP_072179.1:p.Met266Val