Canonical Allele Identifier: CA3335703

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1062163
• ClinVar RCV Id: RCV001371848
• dbSNP Id: rs753506212
• ExAC: 5:86649020 G / A
• gnomAD v2: 5-86649020-G-A
• MyVariant Identifiers: chr5:g.86649020G>A (hg19) ; chr5:g.87353203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353203G>A , CM000667.2:g.87353203G>A	GRCh38
NC_000005.9:g.86649020G>A , CM000667.1:g.86649020G>A	GRCh37
NC_000005.8:g.86684776G>A	NCBI36
NG_011650.1:g.89870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1300G>A (RASA1) MANE Select	ENSP00000274376.6:p.Gly434Arg
ENST00000645953.1:c.*91-34306C>T (CCNH)	ENSP00000494460.1:n.*91-34306C>T
ENST00000274376.10:c.1300G>A (RASA1)	ENSP00000274376.6:p.Gly434Arg
ENST00000456692.6:c.769G>A (RASA1)	ENSP00000411221.2:p.Gly257Arg
ENST00000506290.1:c.802G>A (RASA1)	ENSP00000420905.1:p.Gly268Arg
ENST00000509953.1:n.403G>A (RASA1)
ENST00000512763.5:c.799G>A (RASA1)	ENSP00000422008.1:p.Gly267Arg
ENST00000515800.6:c.1300G>A (RASA1)	ENSP00000423395.2:p.Gly434Arg
NM_002890.2:c.1300G>A (RASA1)	NP_002881.1:p.Gly434Arg
NM_022650.2:c.769G>A (RASA1)	NP_072179.1:p.Gly257Arg
XM_011543525.1:c.1300G>A (RASA1)	XP_011541827.1:p.Gly434Arg
XM_011543526.1:c.1300G>A (RASA1)	XP_011541828.1:p.Gly434Arg
XM_011543527.1:c.1300G>A (RASA1)	XP_011541829.1:p.Gly434Arg
NM_001364075.1:c.934-40408C>T (CCNH)	NP_001351004.1:n.934-40408C>T
NR_157068.1:n.1447+39567C>T (CCNH)
NR_157069.1:n.1040+39567C>T (CCNH)
NR_157070.1:n.1204+39567C>T (CCNH)
XM_011543525.2:c.1300G>A (RASA1)	XP_011541827.1:p.Gly434Arg
XM_011543527.3:c.1300G>A (RASA1)	XP_011541829.1:p.Gly434Arg
NM_001364075.2:c.934-40408C>T (CCNH)	NP_001351004.1:n.934-40408C>T
NM_002890.3:c.1300G>A (RASA1) MANE Select	NP_002881.1:p.Gly434Arg
NR_157068.2:n.1447+39567C>T (CCNH)
NR_157069.2:n.1040+39567C>T (CCNH)
NR_157070.2:n.1204+39567C>T (CCNH)
NM_022650.3:c.769G>A (RASA1)	NP_072179.1:p.Gly257Arg