Canonical Allele Identifier: CA3335527

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 464869
• ClinVar RCV Id: RCV000547516
• dbSNP Id: rs182498192
• ExAC: 5:86627242 T / C
• gnomAD v2: 5-86627242-T-C
• gnomAD v3: 5-87331425-T-C
• gnomAD v4: 5-87331425-T-C
• MyVariant Identifiers: chr5:g.86627242T>C (hg19) ; chr5:g.87331425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331425T>C , CM000667.2:g.87331425T>C	GRCh38
NC_000005.9:g.86627242T>C , CM000667.1:g.86627242T>C	GRCh37
NC_000005.8:g.86662998T>C	NCBI36
NG_011650.1:g.68092T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.617T>C (RASA1) MANE Select	ENSP00000274376.6:p.Ile206Thr
ENST00000645953.1:c.*91-12528A>G (CCNH)	ENSP00000494460.1:n.*91-12528A>G
ENST00000274376.10:c.617T>C (RASA1)	ENSP00000274376.6:p.Ile206Thr
ENST00000456692.6:c.86T>C (RASA1)	ENSP00000411221.2:p.Ile29Thr
ENST00000506290.1:c.119T>C (RASA1)	ENSP00000420905.1:p.Ile40Thr
ENST00000512763.5:c.116T>C (RASA1)	ENSP00000422008.1:p.Ile39Thr
ENST00000515800.6:c.617T>C (RASA1)	ENSP00000423395.2:p.Ile206Thr
NM_002890.2:c.617T>C (RASA1)	NP_002881.1:p.Ile206Thr
NM_022650.2:c.86T>C (RASA1)	NP_072179.1:p.Ile29Thr
XM_011543525.1:c.617T>C (RASA1)	XP_011541827.1:p.Ile206Thr
XM_011543526.1:c.617T>C (RASA1)	XP_011541828.1:p.Ile206Thr
XM_011543527.1:c.617T>C (RASA1)	XP_011541829.1:p.Ile206Thr
NM_001364075.1:c.934-18630A>G (CCNH)	NP_001351004.1:n.934-18630A>G
NR_157068.1:n.1448-18630A>G (CCNH)
NR_157069.1:n.1041-18630A>G (CCNH)
NR_157070.1:n.1205-18630A>G (CCNH)
XM_011543525.2:c.617T>C (RASA1)	XP_011541827.1:p.Ile206Thr
XM_011543527.3:c.617T>C (RASA1)	XP_011541829.1:p.Ile206Thr
NM_001364075.2:c.934-18630A>G (CCNH)	NP_001351004.1:n.934-18630A>G
NM_002890.3:c.617T>C (RASA1) MANE Select	NP_002881.1:p.Ile206Thr
NR_157068.2:n.1448-18630A>G (CCNH)
NR_157069.2:n.1041-18630A>G (CCNH)
NR_157070.2:n.1205-18630A>G (CCNH)
NM_022650.3:c.86T>C (RASA1)	NP_072179.1:p.Ile29Thr