Canonical Allele Identifier: CA3335591

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1546770
• ClinVar RCV Id: RCV002175018
• dbSNP Id: rs545348240
• ExAC: 5:86629164 A / G
• gnomAD v2: 5-86629164-A-G
• gnomAD v3: 5-87333347-A-G
• gnomAD v4: 5-87333347-A-G
• MyVariant Identifiers: chr5:g.86629164A>G (hg19) ; chr5:g.87333347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87333347A>G , CM000667.2:g.87333347A>G	GRCh38
NC_000005.9:g.86629164A>G , CM000667.1:g.86629164A>G	GRCh37
NC_000005.8:g.86664920A>G	NCBI36
NG_011650.1:g.70014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.899+10A>G (RASA1) MANE Select	ENSP00000274376.6:n.899+10A>G
ENST00000645953.1:c.*91-14450T>C (CCNH)	ENSP00000494460.1:n.*91-14450T>C
ENST00000274376.10:c.899+10A>G (RASA1)	ENSP00000274376.6:n.899+10A>G
ENST00000456692.6:c.368+10A>G (RASA1)	ENSP00000411221.2:n.368+10A>G
ENST00000506290.1:c.401+10A>G (RASA1)	ENSP00000420905.1:n.401+10A>G
ENST00000512763.5:c.398+10A>G (RASA1)	ENSP00000422008.1:n.398+10A>G
ENST00000515800.6:c.899+10A>G (RASA1)	ENSP00000423395.2:n.899+10A>G
NM_002890.2:c.899+10A>G (RASA1)	NP_002881.1:n.899+10A>G
NM_022650.2:c.368+10A>G (RASA1)	NP_072179.1:n.368+10A>G
XM_011543525.1:c.899+10A>G (RASA1)	XP_011541827.1:n.899+10A>G
XM_011543526.1:c.899+10A>G (RASA1)	XP_011541828.1:n.899+10A>G
XM_011543527.1:c.899+10A>G (RASA1)	XP_011541829.1:n.899+10A>G
NM_001364075.1:c.934-20552T>C (CCNH)	NP_001351004.1:n.934-20552T>C
NR_157068.1:n.1448-20552T>C (CCNH)
NR_157069.1:n.1041-20552T>C (CCNH)
NR_157070.1:n.1205-20552T>C (CCNH)
XM_011543525.2:c.899+10A>G (RASA1)	XP_011541827.1:n.899+10A>G
XM_011543527.3:c.899+10A>G (RASA1)	XP_011541829.1:n.899+10A>G
NM_001364075.2:c.934-20552T>C (CCNH)	NP_001351004.1:n.934-20552T>C
NM_002890.3:c.899+10A>G (RASA1) MANE Select	NP_002881.1:n.899+10A>G
NR_157068.2:n.1448-20552T>C (CCNH)
NR_157069.2:n.1041-20552T>C (CCNH)
NR_157070.2:n.1205-20552T>C (CCNH)
NM_022650.3:c.368+10A>G (RASA1)	NP_072179.1:n.368+10A>G