Canonical Allele Identifier: CA3336029

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs764309285
• ExAC: 5:86675673 T / C
• MyVariant Identifiers: chr5:g.86675673T>C (hg19) ; chr5:g.87379856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379856T>C , CM000667.2:g.87379856T>C	GRCh38
NC_000005.9:g.86675673T>C , CM000667.1:g.86675673T>C	GRCh37
NC_000005.8:g.86711429T>C	NCBI36
NG_011650.1:g.116523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2603+6T>C (RASA1) MANE Select	ENSP00000274376.6:n.2603+6T>C
ENST00000645953.1:c.*90+12914A>G (CCNH)	ENSP00000494460.1:n.*90+12914A>G
ENST00000646883.1:c.255-3338A>G (CCNH)
ENST00000274376.10:c.2603+6T>C (RASA1)	ENSP00000274376.6:n.2603+6T>C
ENST00000456692.6:c.2072+6T>C (RASA1)	ENSP00000411221.2:n.2072+6T>C
ENST00000506290.1:c.2105+6T>C (RASA1)	ENSP00000420905.1:n.2105+6T>C
ENST00000512763.5:c.2102+6T>C (RASA1)	ENSP00000422008.1:n.2102+6T>C
ENST00000515800.6:c.*1128+6T>C (RASA1)	ENSP00000423395.2:n.*1128+6T>C
NM_002890.2:c.2603+6T>C (RASA1)	NP_002881.1:n.2603+6T>C
NM_022650.2:c.2072+6T>C (RASA1)	NP_072179.1:n.2072+6T>C
XM_011543525.1:c.2603+6T>C (RASA1)	XP_011541827.1:n.2603+6T>C
XM_011543526.1:c.2603+6T>C (RASA1)	XP_011541828.1:n.2603+6T>C
NM_001364075.1:c.933+15188A>G (CCNH)	NP_001351004.1:n.933+15188A>G
NR_157068.1:n.1447+12914A>G (CCNH)
NR_157069.1:n.1040+12914A>G (CCNH)
NR_157070.1:n.1204+12914A>G (CCNH)
XM_011543525.2:c.2603+6T>C (RASA1)	XP_011541827.1:n.2603+6T>C
NM_001364075.2:c.933+15188A>G (CCNH)	NP_001351004.1:n.933+15188A>G
NM_002890.3:c.2603+6T>C (RASA1) MANE Select	NP_002881.1:n.2603+6T>C
NR_157068.2:n.1447+12914A>G (CCNH)
NR_157069.2:n.1040+12914A>G (CCNH)
NR_157070.2:n.1204+12914A>G (CCNH)
NM_022650.3:c.2072+6T>C (RASA1)	NP_072179.1:n.2072+6T>C