Canonical Allele Identifier: CA3335777

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 3054126
• ClinVar RCV Id: RCV003967009
• dbSNP Id: rs752748783
• ExAC: 5:86659216 C / T
• gnomAD v2: 5-86659216-C-T
• gnomAD v3: 5-87363399-C-T
• gnomAD v4: 5-87363399-C-T
• MyVariant Identifiers: chr5:g.86659216C>T (hg19) ; chr5:g.87363399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87363399C>T , CM000667.2:g.87363399C>T	GRCh38
NC_000005.9:g.86659216C>T , CM000667.1:g.86659216C>T	GRCh37
NC_000005.8:g.86694972C>T	NCBI36
NG_011650.1:g.100066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.1505C>T (RASA1) MANE Select	ENSP00000274376.6:p.Ala502Val
ENST00000645953.1:c.*90+29371G>A (CCNH)	ENSP00000494460.1:n.*90+29371G>A
ENST00000274376.10:c.1505C>T (RASA1)	ENSP00000274376.6:p.Ala502Val
ENST00000456692.6:c.974C>T (RASA1)	ENSP00000411221.2:p.Ala325Val
ENST00000506290.1:c.1007C>T (RASA1)	ENSP00000420905.1:p.Ala336Val
ENST00000509953.1:n.608C>T (RASA1)
ENST00000512763.5:c.1004C>T (RASA1)	ENSP00000422008.1:p.Ala335Val
ENST00000515800.6:c.1505C>T (RASA1)	ENSP00000423395.2:p.Ala502Val
NM_002890.2:c.1505C>T (RASA1)	NP_002881.1:p.Ala502Val
NM_022650.2:c.974C>T (RASA1)	NP_072179.1:p.Ala325Val
XM_011543525.1:c.1505C>T (RASA1)	XP_011541827.1:p.Ala502Val
XM_011543526.1:c.1505C>T (RASA1)	XP_011541828.1:p.Ala502Val
XM_011543527.1:c.1505C>T (RASA1)	XP_011541829.1:p.Ala502Val
NM_001364075.1:c.933+31645G>A (CCNH)	NP_001351004.1:n.933+31645G>A
NR_157068.1:n.1447+29371G>A (CCNH)
NR_157069.1:n.1040+29371G>A (CCNH)
NR_157070.1:n.1204+29371G>A (CCNH)
XM_011543525.2:c.1505C>T (RASA1)	XP_011541827.1:p.Ala502Val
XM_011543527.3:c.1505C>T (RASA1)	XP_011541829.1:p.Ala502Val
NM_001364075.2:c.933+31645G>A (CCNH)	NP_001351004.1:n.933+31645G>A
NM_002890.3:c.1505C>T (RASA1) MANE Select	NP_002881.1:p.Ala502Val
NR_157068.2:n.1447+29371G>A (CCNH)
NR_157069.2:n.1040+29371G>A (CCNH)
NR_157070.2:n.1204+29371G>A (CCNH)
NM_022650.3:c.974C>T (RASA1)	NP_072179.1:p.Ala325Val