Canonical Allele Identifier: CA360383847

Gene: RASA1 CCNH

Linked Data

• MyVariant Identifiers: chr5:g.86675606C>A (hg19) ; chr5:g.87379789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87379789C>A , CM000667.2:g.87379789C>A	GRCh38
NC_000005.9:g.86675606C>A , CM000667.1:g.86675606C>A	GRCh37
NC_000005.8:g.86711362C>A	NCBI36
NG_011650.1:g.116456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2542C>A (RASA1) MANE Select	ENSP00000274376.6:p.Leu848Ile
ENST00000645953.1:c.*90+12981G>T (CCNH)	ENSP00000494460.1:n.*90+12981G>T
ENST00000646883.1:c.255-3271G>T (CCNH)
ENST00000274376.10:c.2542C>A (RASA1)	ENSP00000274376.6:p.Leu848Ile
ENST00000456692.6:c.2011C>A (RASA1)	ENSP00000411221.2:p.Leu671Ile
ENST00000506290.1:c.2044C>A (RASA1)	ENSP00000420905.1:p.Leu682Ile
ENST00000512763.5:c.2041C>A (RASA1)	ENSP00000422008.1:p.Leu681Ile
ENST00000515800.6:c.*1067C>A (RASA1)	ENSP00000423395.2:n.*1067C>A
NM_002890.2:c.2542C>A (RASA1)	NP_002881.1:p.Leu848Ile
NM_022650.2:c.2011C>A (RASA1)	NP_072179.1:p.Leu671Ile
XM_011543525.1:c.2542C>A (RASA1)	XP_011541827.1:p.Leu848Ile
XM_011543526.1:c.2542C>A (RASA1)	XP_011541828.1:p.Leu848Ile
NM_001364075.1:c.933+15255G>T (CCNH)	NP_001351004.1:n.933+15255G>T
NR_157068.1:n.1447+12981G>T (CCNH)
NR_157069.1:n.1040+12981G>T (CCNH)
NR_157070.1:n.1204+12981G>T (CCNH)
XM_011543525.2:c.2542C>A (RASA1)	XP_011541827.1:p.Leu848Ile
NM_001364075.2:c.933+15255G>T (CCNH)	NP_001351004.1:n.933+15255G>T
NM_002890.3:c.2542C>A (RASA1) MANE Select	NP_002881.1:p.Leu848Ile
NR_157068.2:n.1447+12981G>T (CCNH)
NR_157069.2:n.1040+12981G>T (CCNH)
NR_157070.2:n.1204+12981G>T (CCNH)
NM_022650.3:c.2011C>A (RASA1)	NP_072179.1:p.Leu671Ile