Canonical Allele Identifier: CA10625365

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 354540
• ClinVar RCV Id: RCV000364112 ; RCV000401955
• dbSNP Id: rs886060848
• MyVariant Identifiers: chr5:g.86687272C>A (hg19) ; chr5:g.87391455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87391455C>A , CM000667.2:g.87391455C>A	GRCh38
NC_000005.9:g.86687272C>A , CM000667.1:g.86687272C>A	GRCh37
NC_000005.8:g.86723028C>A	NCBI36
NG_011650.1:g.128122C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.*572C>A (RASA1) MANE Select	ENSP00000274376.6:n.*572C>A
ENST00000645953.1:c.*90+1315G>T (CCNH)	ENSP00000494460.1:n.*90+1315G>T
ENST00000646883.1:c.254+1315G>T (CCNH)
ENST00000456692.6:c.*572C>A (RASA1)	ENSP00000411221.2:n.*572C>A
ENST00000515800.6:c.*2331C>A (RASA1)	ENSP00000423395.2:n.*2331C>A
NM_002890.2:c.*572C>A (RASA1)	NP_002881.1:n.*572C>A
NM_022650.2:c.*572C>A (RASA1)	NP_072179.1:n.*572C>A
XM_011543525.1:c.*572C>A (RASA1)	XP_011541827.1:n.*572C>A
NM_001363539.1:c.*1405G>T (CCNH)	NP_001350468.1:n.*1405G>T
NM_001364075.1:c.933+3589G>T (CCNH)	NP_001351004.1:n.933+3589G>T
NM_001364076.1:c.*1405G>T (CCNH)	NP_001351005.1:n.*1405G>T
NR_157068.1:n.1447+1315G>T (CCNH)
NR_157069.1:n.1040+1315G>T (CCNH)
NR_157070.1:n.1204+1315G>T (CCNH)
NR_157071.1:n.2355G>T (CCNH)
XM_011543525.2:c.*572C>A (RASA1)	XP_011541827.1:n.*572C>A
NM_001364075.2:c.933+3589G>T (CCNH)	NP_001351004.1:n.933+3589G>T
NM_001364076.2:c.*1405G>T (CCNH)	NP_001351005.1:n.*1405G>T
NM_002890.3:c.*572C>A (RASA1) MANE Select	NP_002881.1:n.*572C>A
NR_157068.2:n.1447+1315G>T (CCNH)
NR_157069.2:n.1040+1315G>T (CCNH)
NR_157070.2:n.1204+1315G>T (CCNH)
NR_157071.2:n.2355G>T (CCNH)
NM_001363539.2:c.*1405G>T (CCNH)	NP_001350468.1:n.*1405G>T
NM_022650.3:c.*572C>A (RASA1)	NP_072179.1:n.*572C>A