Canonical Allele Identifier: CA360388060

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2013157
• ClinVar RCV Id: RCV002834460
• MyVariant Identifiers: chr5:g.86685241A>T (hg19) ; chr5:g.87389424A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389424A>T , CM000667.2:g.87389424A>T	GRCh38
NC_000005.9:g.86685241A>T , CM000667.1:g.86685241A>T	GRCh37
NC_000005.8:g.86720997A>T	NCBI36
NG_011650.1:g.126091A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2957A>T (RASA1) MANE Select	ENSP00000274376.6:p.His986Leu
ENST00000645953.1:c.*90+3346T>A (CCNH)	ENSP00000494460.1:n.*90+3346T>A
ENST00000646883.1:c.254+3346T>A (CCNH)
ENST00000274376.10:c.2957A>T (RASA1)	ENSP00000274376.6:p.His986Leu
ENST00000456692.6:c.2426A>T (RASA1)	ENSP00000411221.2:p.His809Leu
ENST00000506290.1:c.2459A>T (RASA1)	ENSP00000420905.1:p.His820Leu
ENST00000512763.5:c.2456A>T (RASA1)	ENSP00000422008.1:p.His819Leu
ENST00000515800.6:c.*1572A>T (RASA1)	ENSP00000423395.2:n.*1572A>T
NM_002890.2:c.2957A>T (RASA1)	NP_002881.1:p.His986Leu
NM_022650.2:c.2426A>T (RASA1)	NP_072179.1:p.His809Leu
XM_011543525.1:c.2870A>T (RASA1)	XP_011541827.1:p.His957Leu
NM_001364075.1:c.933+5620T>A (CCNH)	NP_001351004.1:n.933+5620T>A
NR_157068.1:n.1447+3346T>A (CCNH)
NR_157069.1:n.1040+3346T>A (CCNH)
NR_157070.1:n.1204+3346T>A (CCNH)
XM_011543525.2:c.2870A>T (RASA1)	XP_011541827.1:p.His957Leu
NM_001364075.2:c.933+5620T>A (CCNH)	NP_001351004.1:n.933+5620T>A
NM_002890.3:c.2957A>T (RASA1) MANE Select	NP_002881.1:p.His986Leu
NR_157068.2:n.1447+3346T>A (CCNH)
NR_157069.2:n.1040+3346T>A (CCNH)
NR_157070.2:n.1204+3346T>A (CCNH)
NM_022650.3:c.2426A>T (RASA1)	NP_072179.1:p.His809Leu