Canonical Allele Identifier: CA3336170

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs372521279
• ExAC: 5:86685213 G / A
• MyVariant Identifiers: chr5:g.86685213G>A (hg19) ; chr5:g.87389396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389396G>A , CM000667.2:g.87389396G>A	GRCh38
NC_000005.9:g.86685213G>A , CM000667.1:g.86685213G>A	GRCh37
NC_000005.8:g.86720969G>A	NCBI36
NG_011650.1:g.126063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2929G>A (RASA1) MANE Select	ENSP00000274376.6:p.Val977Ile
ENST00000645953.1:c.*90+3374C>T (CCNH)	ENSP00000494460.1:n.*90+3374C>T
ENST00000646883.1:c.254+3374C>T (CCNH)
ENST00000274376.10:c.2929G>A (RASA1)	ENSP00000274376.6:p.Val977Ile
ENST00000456692.6:c.2398G>A (RASA1)	ENSP00000411221.2:p.Val800Ile
ENST00000506290.1:c.2431G>A (RASA1)	ENSP00000420905.1:p.Val811Ile
ENST00000512763.5:c.2428G>A (RASA1)	ENSP00000422008.1:p.Val810Ile
ENST00000515800.6:c.*1544G>A (RASA1)	ENSP00000423395.2:n.*1544G>A
NM_002890.2:c.2929G>A (RASA1)	NP_002881.1:p.Val977Ile
NM_022650.2:c.2398G>A (RASA1)	NP_072179.1:p.Val800Ile
XM_011543525.1:c.2842G>A (RASA1)	XP_011541827.1:p.Val948Ile
NM_001364075.1:c.933+5648C>T (CCNH)	NP_001351004.1:n.933+5648C>T
NR_157068.1:n.1447+3374C>T (CCNH)
NR_157069.1:n.1040+3374C>T (CCNH)
NR_157070.1:n.1204+3374C>T (CCNH)
XM_011543525.2:c.2842G>A (RASA1)	XP_011541827.1:p.Val948Ile
NM_001364075.2:c.933+5648C>T (CCNH)	NP_001351004.1:n.933+5648C>T
NM_002890.3:c.2929G>A (RASA1) MANE Select	NP_002881.1:p.Val977Ile
NR_157068.2:n.1447+3374C>T (CCNH)
NR_157069.2:n.1040+3374C>T (CCNH)
NR_157070.2:n.1204+3374C>T (CCNH)
NM_022650.3:c.2398G>A (RASA1)	NP_072179.1:p.Val800Ile