Canonical Allele Identifier: CA360383651

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 504107
• ClinVar RCV Id: RCV000598939
• dbSNP Id: rs1554049816
• COSMIC: COSM4538145 ; COSM4538146
• MyVariant Identifiers: chr5:g.86675570G>T (hg19) ; chr5:g.87379753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379753G>T , CM000667.2:g.87379753G>T	GRCh38
NC_000005.9:g.86675570G>T , CM000667.1:g.86675570G>T	GRCh37
NC_000005.8:g.86711326G>T	NCBI36
NG_011650.1:g.116420G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2506G>T (RASA1) MANE Select	ENSP00000274376.6:p.Glu836Ter
ENST00000645953.1:c.*90+13017C>A (CCNH)	ENSP00000494460.1:n.*90+13017C>A
ENST00000646883.1:c.255-3235C>A (CCNH)
ENST00000274376.10:c.2506G>T (RASA1)	ENSP00000274376.6:p.Glu836Ter
ENST00000456692.6:c.1975G>T (RASA1)	ENSP00000411221.2:p.Glu659Ter
ENST00000506290.1:c.2008G>T (RASA1)	ENSP00000420905.1:p.Glu670Ter
ENST00000512763.5:c.2005G>T (RASA1)	ENSP00000422008.1:p.Glu669Ter
ENST00000515800.6:c.*1031G>T (RASA1)	ENSP00000423395.2:n.*1031G>T
NM_002890.2:c.2506G>T (RASA1)	NP_002881.1:p.Glu836Ter
NM_022650.2:c.1975G>T (RASA1)	NP_072179.1:p.Glu659Ter
XM_011543525.1:c.2506G>T (RASA1)	XP_011541827.1:p.Glu836Ter
XM_011543526.1:c.2506G>T (RASA1)	XP_011541828.1:p.Glu836Ter
NM_001364075.1:c.933+15291C>A (CCNH)	NP_001351004.1:n.933+15291C>A
NR_157068.1:n.1447+13017C>A (CCNH)
NR_157069.1:n.1040+13017C>A (CCNH)
NR_157070.1:n.1204+13017C>A (CCNH)
XM_011543525.2:c.2506G>T (RASA1)	XP_011541827.1:p.Glu836Ter
NM_001364075.2:c.933+15291C>A (CCNH)	NP_001351004.1:n.933+15291C>A
NM_002890.3:c.2506G>T (RASA1) MANE Select	NP_002881.1:p.Glu836Ter
NR_157068.2:n.1447+13017C>A (CCNH)
NR_157069.2:n.1040+13017C>A (CCNH)
NR_157070.2:n.1204+13017C>A (CCNH)
NM_022650.3:c.1975G>T (RASA1)	NP_072179.1:p.Glu659Ter