Canonical Allele Identifier: CA3335610

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1402818
• ClinVar RCV Id: RCV001908734
• dbSNP Id: rs756457101
• ExAC: 5:86633883 T / C
• gnomAD v2: 5-86633883-T-C
• gnomAD v3: 5-87338066-T-C
• gnomAD v4: 5-87338066-T-C
• MyVariant Identifiers: chr5:g.86633883T>C (hg19) ; chr5:g.87338066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87338066T>C , CM000667.2:g.87338066T>C	GRCh38
NC_000005.9:g.86633883T>C , CM000667.1:g.86633883T>C	GRCh37
NC_000005.8:g.86669639T>C	NCBI36
NG_011650.1:g.74733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.992T>C (RASA1) MANE Select	ENSP00000274376.6:p.Ile331Thr
ENST00000645953.1:c.*91-19169A>G (CCNH)	ENSP00000494460.1:n.*91-19169A>G
ENST00000274376.10:c.992T>C (RASA1)	ENSP00000274376.6:p.Ile331Thr
ENST00000456692.6:c.461T>C (RASA1)	ENSP00000411221.2:p.Ile154Thr
ENST00000506290.1:c.494T>C (RASA1)	ENSP00000420905.1:p.Ile165Thr
ENST00000509953.1:n.95T>C (RASA1)
ENST00000512763.5:c.491T>C (RASA1)	ENSP00000422008.1:p.Ile164Thr
ENST00000515800.6:c.992T>C (RASA1)	ENSP00000423395.2:p.Ile331Thr
NM_002890.2:c.992T>C (RASA1)	NP_002881.1:p.Ile331Thr
NM_022650.2:c.461T>C (RASA1)	NP_072179.1:p.Ile154Thr
XM_011543525.1:c.992T>C (RASA1)	XP_011541827.1:p.Ile331Thr
XM_011543526.1:c.992T>C (RASA1)	XP_011541828.1:p.Ile331Thr
XM_011543527.1:c.992T>C (RASA1)	XP_011541829.1:p.Ile331Thr
NM_001364075.1:c.934-25271A>G (CCNH)	NP_001351004.1:n.934-25271A>G
NR_157068.1:n.1448-25271A>G (CCNH)
NR_157069.1:n.1041-25271A>G (CCNH)
NR_157070.1:n.1205-25271A>G (CCNH)
XM_011543525.2:c.992T>C (RASA1)	XP_011541827.1:p.Ile331Thr
XM_011543527.3:c.992T>C (RASA1)	XP_011541829.1:p.Ile331Thr
NM_001364075.2:c.934-25271A>G (CCNH)	NP_001351004.1:n.934-25271A>G
NM_002890.3:c.992T>C (RASA1) MANE Select	NP_002881.1:p.Ile331Thr
NR_157068.2:n.1448-25271A>G (CCNH)
NR_157069.2:n.1041-25271A>G (CCNH)
NR_157070.2:n.1205-25271A>G (CCNH)
NM_022650.3:c.461T>C (RASA1)	NP_072179.1:p.Ile154Thr