Canonical Allele Identifier: CA3335517

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1674104
• ClinVar RCV Id: RCV002206420
• dbSNP Id: rs374013466
• ExAC: 5:86627146 T / G
• gnomAD v2: 5-86627146-T-G
• gnomAD v3: 5-87331329-T-G
• gnomAD v4: 5-87331329-T-G
• MyVariant Identifiers: chr5:g.86627146T>G (hg19) ; chr5:g.86627146_86627148delinsGTC (hg19) ; chr5:g.87331329T>G (hg38) ; chr5:g.87331329_87331331delinsGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331329T>G , CM000667.2:g.87331329T>G	GRCh38
NC_000005.9:g.86627146T>G , CM000667.1:g.86627146T>G	GRCh37
NC_000005.8:g.86662902T>G	NCBI36
NG_011650.1:g.67996T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.540-19T>G (RASA1) MANE Select	ENSP00000274376.6:n.540-19T>G
ENST00000645953.1:c.*91-12432A>C (CCNH)	ENSP00000494460.1:n.*91-12432A>C
ENST00000274376.10:c.540-19T>G (RASA1)	ENSP00000274376.6:n.540-19T>G
ENST00000456692.6:c.9-19T>G (RASA1)	ENSP00000411221.2:n.9-19T>G
ENST00000506290.1:c.42-19T>G (RASA1)	ENSP00000420905.1:n.42-19T>G
ENST00000512763.5:c.39-19T>G (RASA1)	ENSP00000422008.1:n.39-19T>G
ENST00000515800.6:c.540-19T>G (RASA1)	ENSP00000423395.2:n.540-19T>G
NM_002890.2:c.540-19T>G (RASA1)	NP_002881.1:n.540-19T>G
NM_022650.2:c.9-19T>G (RASA1)	NP_072179.1:n.9-19T>G
XM_011543525.1:c.540-19T>G (RASA1)	XP_011541827.1:n.540-19T>G
XM_011543526.1:c.540-19T>G (RASA1)	XP_011541828.1:n.540-19T>G
XM_011543527.1:c.540-19T>G (RASA1)	XP_011541829.1:n.540-19T>G
NM_001364075.1:c.934-18534A>C (CCNH)	NP_001351004.1:n.934-18534A>C
NR_157068.1:n.1448-18534A>C (CCNH)
NR_157069.1:n.1041-18534A>C (CCNH)
NR_157070.1:n.1205-18534A>C (CCNH)
XM_011543525.2:c.540-19T>G (RASA1)	XP_011541827.1:n.540-19T>G
XM_011543527.3:c.540-19T>G (RASA1)	XP_011541829.1:n.540-19T>G
NM_001364075.2:c.934-18534A>C (CCNH)	NP_001351004.1:n.934-18534A>C
NM_002890.3:c.540-19T>G (RASA1) MANE Select	NP_002881.1:n.540-19T>G
NR_157068.2:n.1448-18534A>C (CCNH)
NR_157069.2:n.1041-18534A>C (CCNH)
NR_157070.2:n.1205-18534A>C (CCNH)
NM_022650.3:c.9-19T>G (RASA1)	NP_072179.1:n.9-19T>G