Canonical Allele Identifier: CA360376014

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1950096
• ClinVar RCV Id: RCV002671474
• dbSNP Id: rs1399533599
• gnomAD v2: 5-86627269-C-T
• gnomAD v4: 5-87331452-C-T
• MyVariant Identifiers: chr5:g.86627269C>T (hg19) ; chr5:g.87331452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331452C>T , CM000667.2:g.87331452C>T	GRCh38
NC_000005.9:g.86627269C>T , CM000667.1:g.86627269C>T	GRCh37
NC_000005.8:g.86663025C>T	NCBI36
NG_011650.1:g.68119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.644C>T (RASA1) MANE Select	ENSP00000274376.6:p.Ser215Phe
ENST00000645953.1:c.*91-12555G>A (CCNH)	ENSP00000494460.1:n.*91-12555G>A
ENST00000274376.10:c.644C>T (RASA1)	ENSP00000274376.6:p.Ser215Phe
ENST00000456692.6:c.113C>T (RASA1)	ENSP00000411221.2:p.Ser38Phe
ENST00000506290.1:c.146C>T (RASA1)	ENSP00000420905.1:p.Ser49Phe
ENST00000512763.5:c.143C>T (RASA1)	ENSP00000422008.1:p.Ser48Phe
ENST00000515800.6:c.644C>T (RASA1)	ENSP00000423395.2:p.Ser215Phe
NM_002890.2:c.644C>T (RASA1)	NP_002881.1:p.Ser215Phe
NM_022650.2:c.113C>T (RASA1)	NP_072179.1:p.Ser38Phe
XM_011543525.1:c.644C>T (RASA1)	XP_011541827.1:p.Ser215Phe
XM_011543526.1:c.644C>T (RASA1)	XP_011541828.1:p.Ser215Phe
XM_011543527.1:c.644C>T (RASA1)	XP_011541829.1:p.Ser215Phe
NM_001364075.1:c.934-18657G>A (CCNH)	NP_001351004.1:n.934-18657G>A
NR_157068.1:n.1448-18657G>A (CCNH)
NR_157069.1:n.1041-18657G>A (CCNH)
NR_157070.1:n.1205-18657G>A (CCNH)
XM_011543525.2:c.644C>T (RASA1)	XP_011541827.1:p.Ser215Phe
XM_011543527.3:c.644C>T (RASA1)	XP_011541829.1:p.Ser215Phe
NM_001364075.2:c.934-18657G>A (CCNH)	NP_001351004.1:n.934-18657G>A
NM_002890.3:c.644C>T (RASA1) MANE Select	NP_002881.1:p.Ser215Phe
NR_157068.2:n.1448-18657G>A (CCNH)
NR_157069.2:n.1041-18657G>A (CCNH)
NR_157070.2:n.1205-18657G>A (CCNH)
NM_022650.3:c.113C>T (RASA1)	NP_072179.1:p.Ser38Phe