Canonical Allele Identifier: CA360374794

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2811228
• ClinVar RCV Id: RCV003760813
• gnomAD v4: 5-87331357-C-A
• MyVariant Identifiers: chr5:g.86627174C>A (hg19) ; chr5:g.87331357C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331357C>A , CM000667.2:g.87331357C>A	GRCh38
NC_000005.9:g.86627174C>A , CM000667.1:g.86627174C>A	GRCh37
NC_000005.8:g.86662930C>A	NCBI36
NG_011650.1:g.68024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.549C>A (RASA1) MANE Select	ENSP00000274376.6:p.His183Gln
ENST00000645953.1:c.*91-12460G>T (CCNH)	ENSP00000494460.1:n.*91-12460G>T
ENST00000274376.10:c.549C>A (RASA1)	ENSP00000274376.6:p.His183Gln
ENST00000456692.6:c.18C>A (RASA1)	ENSP00000411221.2:p.His6Gln
ENST00000506290.1:c.51C>A (RASA1)	ENSP00000420905.1:p.His17Gln
ENST00000512763.5:c.48C>A (RASA1)	ENSP00000422008.1:p.His16Gln
ENST00000515800.6:c.549C>A (RASA1)	ENSP00000423395.2:p.His183Gln
NM_002890.2:c.549C>A (RASA1)	NP_002881.1:p.His183Gln
NM_022650.2:c.18C>A (RASA1)	NP_072179.1:p.His6Gln
XM_011543525.1:c.549C>A (RASA1)	XP_011541827.1:p.His183Gln
XM_011543526.1:c.549C>A (RASA1)	XP_011541828.1:p.His183Gln
XM_011543527.1:c.549C>A (RASA1)	XP_011541829.1:p.His183Gln
NM_001364075.1:c.934-18562G>T (CCNH)	NP_001351004.1:n.934-18562G>T
NR_157068.1:n.1448-18562G>T (CCNH)
NR_157069.1:n.1041-18562G>T (CCNH)
NR_157070.1:n.1205-18562G>T (CCNH)
XM_011543525.2:c.549C>A (RASA1)	XP_011541827.1:p.His183Gln
XM_011543527.3:c.549C>A (RASA1)	XP_011541829.1:p.His183Gln
NM_001364075.2:c.934-18562G>T (CCNH)	NP_001351004.1:n.934-18562G>T
NM_002890.3:c.549C>A (RASA1) MANE Select	NP_002881.1:p.His183Gln
NR_157068.2:n.1448-18562G>T (CCNH)
NR_157069.2:n.1041-18562G>T (CCNH)
NR_157070.2:n.1205-18562G>T (CCNH)
NM_022650.3:c.18C>A (RASA1)	NP_072179.1:p.His6Gln