Canonical Allele Identifier: CA360383553

Gene: RASA1 CCNH

Linked Data

• MyVariant Identifiers: chr5:g.86675553T>A (hg19) ; chr5:g.87379736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379736T>A , CM000667.2:g.87379736T>A	GRCh38
NC_000005.9:g.86675553T>A , CM000667.1:g.86675553T>A	GRCh37
NC_000005.8:g.86711309T>A	NCBI36
NG_011650.1:g.116403T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2489T>A (RASA1) MANE Select	ENSP00000274376.6:p.Leu830Ter
ENST00000645953.1:c.*90+13034A>T (CCNH)	ENSP00000494460.1:n.*90+13034A>T
ENST00000646883.1:c.255-3218A>T (CCNH)
ENST00000274376.10:c.2489T>A (RASA1)	ENSP00000274376.6:p.Leu830Ter
ENST00000456692.6:c.1958T>A (RASA1)	ENSP00000411221.2:p.Leu653Ter
ENST00000506290.1:c.1991T>A (RASA1)	ENSP00000420905.1:p.Leu664Ter
ENST00000512763.5:c.1988T>A (RASA1)	ENSP00000422008.1:p.Leu663Ter
ENST00000515800.6:c.*1014T>A (RASA1)	ENSP00000423395.2:n.*1014T>A
NM_002890.2:c.2489T>A (RASA1)	NP_002881.1:p.Leu830Ter
NM_022650.2:c.1958T>A (RASA1)	NP_072179.1:p.Leu653Ter
XM_011543525.1:c.2489T>A (RASA1)	XP_011541827.1:p.Leu830Ter
XM_011543526.1:c.2489T>A (RASA1)	XP_011541828.1:p.Leu830Ter
NM_001364075.1:c.933+15308A>T (CCNH)	NP_001351004.1:n.933+15308A>T
NR_157068.1:n.1447+13034A>T (CCNH)
NR_157069.1:n.1040+13034A>T (CCNH)
NR_157070.1:n.1204+13034A>T (CCNH)
XM_011543525.2:c.2489T>A (RASA1)	XP_011541827.1:p.Leu830Ter
NM_001364075.2:c.933+15308A>T (CCNH)	NP_001351004.1:n.933+15308A>T
NM_002890.3:c.2489T>A (RASA1) MANE Select	NP_002881.1:p.Leu830Ter
NR_157068.2:n.1447+13034A>T (CCNH)
NR_157069.2:n.1040+13034A>T (CCNH)
NR_157070.2:n.1204+13034A>T (CCNH)
NM_022650.3:c.1958T>A (RASA1)	NP_072179.1:p.Leu653Ter