Canonical Allele Identifier: CA3336024

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1583548
• ClinVar RCV Id: RCV002099895
• dbSNP Id: rs773083852
• ExAC: 5:86675650 T / C
• gnomAD v2: 5-86675650-T-C
• gnomAD v3: 5-87379833-T-C
• gnomAD v4: 5-87379833-T-C
• MyVariant Identifiers: chr5:g.86675650T>C (hg19) ; chr5:g.87379833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379833T>C , CM000667.2:g.87379833T>C	GRCh38
NC_000005.9:g.86675650T>C , CM000667.1:g.86675650T>C	GRCh37
NC_000005.8:g.86711406T>C	NCBI36
NG_011650.1:g.116500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2586T>C (RASA1) MANE Select	ENSP00000274376.6:p.Ala862=
ENST00000645953.1:c.*90+12937A>G (CCNH)	ENSP00000494460.1:n.*90+12937A>G
ENST00000646883.1:c.255-3315A>G (CCNH)
ENST00000274376.10:c.2586T>C (RASA1)	ENSP00000274376.6:p.Ala862=
ENST00000456692.6:c.2055T>C (RASA1)	ENSP00000411221.2:p.Ala685=
ENST00000506290.1:c.2088T>C (RASA1)	ENSP00000420905.1:p.Ala696=
ENST00000512763.5:c.2085T>C (RASA1)	ENSP00000422008.1:p.Ala695=
ENST00000515800.6:c.*1111T>C (RASA1)	ENSP00000423395.2:n.*1111T>C
NM_002890.2:c.2586T>C (RASA1)	NP_002881.1:p.Ala862=
NM_022650.2:c.2055T>C (RASA1)	NP_072179.1:p.Ala685=
XM_011543525.1:c.2586T>C (RASA1)	XP_011541827.1:p.Ala862=
XM_011543526.1:c.2586T>C (RASA1)	XP_011541828.1:p.Ala862=
NM_001364075.1:c.933+15211A>G (CCNH)	NP_001351004.1:n.933+15211A>G
NR_157068.1:n.1447+12937A>G (CCNH)
NR_157069.1:n.1040+12937A>G (CCNH)
NR_157070.1:n.1204+12937A>G (CCNH)
XM_011543525.2:c.2586T>C (RASA1)	XP_011541827.1:p.Ala862=
NM_001364075.2:c.933+15211A>G (CCNH)	NP_001351004.1:n.933+15211A>G
NM_002890.3:c.2586T>C (RASA1) MANE Select	NP_002881.1:p.Ala862=
NR_157068.2:n.1447+12937A>G (CCNH)
NR_157069.2:n.1040+12937A>G (CCNH)
NR_157070.2:n.1204+12937A>G (CCNH)
NM_022650.3:c.2055T>C (RASA1)	NP_072179.1:p.Ala685=