Canonical Allele Identifier: CA360378376

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87333295-C-G
• MyVariant Identifiers: chr5:g.86629112C>G (hg19) ; chr5:g.87333295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87333295C>G , CM000667.2:g.87333295C>G	GRCh38
NC_000005.9:g.86629112C>G , CM000667.1:g.86629112C>G	GRCh37
NC_000005.8:g.86664868C>G	NCBI36
NG_011650.1:g.69962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.857C>G (RASA1) MANE Select	ENSP00000274376.6:p.Ala286Gly
ENST00000645953.1:c.*91-14398G>C (CCNH)	ENSP00000494460.1:n.*91-14398G>C
ENST00000274376.10:c.857C>G (RASA1)	ENSP00000274376.6:p.Ala286Gly
ENST00000456692.6:c.326C>G (RASA1)	ENSP00000411221.2:p.Ala109Gly
ENST00000506290.1:c.359C>G (RASA1)	ENSP00000420905.1:p.Ala120Gly
ENST00000512763.5:c.356C>G (RASA1)	ENSP00000422008.1:p.Ala119Gly
ENST00000515800.6:c.857C>G (RASA1)	ENSP00000423395.2:p.Ala286Gly
NM_002890.2:c.857C>G (RASA1)	NP_002881.1:p.Ala286Gly
NM_022650.2:c.326C>G (RASA1)	NP_072179.1:p.Ala109Gly
XM_011543525.1:c.857C>G (RASA1)	XP_011541827.1:p.Ala286Gly
XM_011543526.1:c.857C>G (RASA1)	XP_011541828.1:p.Ala286Gly
XM_011543527.1:c.857C>G (RASA1)	XP_011541829.1:p.Ala286Gly
NM_001364075.1:c.934-20500G>C (CCNH)	NP_001351004.1:n.934-20500G>C
NR_157068.1:n.1448-20500G>C (CCNH)
NR_157069.1:n.1041-20500G>C (CCNH)
NR_157070.1:n.1205-20500G>C (CCNH)
XM_011543525.2:c.857C>G (RASA1)	XP_011541827.1:p.Ala286Gly
XM_011543527.3:c.857C>G (RASA1)	XP_011541829.1:p.Ala286Gly
NM_001364075.2:c.934-20500G>C (CCNH)	NP_001351004.1:n.934-20500G>C
NM_002890.3:c.857C>G (RASA1) MANE Select	NP_002881.1:p.Ala286Gly
NR_157068.2:n.1448-20500G>C (CCNH)
NR_157069.2:n.1041-20500G>C (CCNH)
NR_157070.2:n.1205-20500G>C (CCNH)
NM_022650.3:c.326C>G (RASA1)	NP_072179.1:p.Ala109Gly