Canonical Allele Identifier: CA445197921

Gene: RASA1 CCNH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87374204C>T , CM000667.2:g.87374204C>T	GRCh38
NC_000005.9:g.86670021C>T , CM000667.1:g.86670021C>T	GRCh37
NC_000005.8:g.86705777C>T	NCBI36
NG_011650.1:g.110871C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002890.3:c.1818C>T (RASA1) MANE Select	NP_002881.1:p.Leu606=
ENST00000274376.11:c.1818C>T (RASA1) MANE Select	ENSP00000274376.6:p.Leu606=
NM_001364075.1:c.933+20840G>A (CCNH)	NP_001351004.1:n.933+20840G>A
NM_001364075.2:c.933+20840G>A (CCNH)	NP_001351004.1:n.933+20840G>A
NM_002890.2:c.1818C>T (RASA1)	NP_002881.1:p.Leu606=
NM_022650.2:c.1287C>T (RASA1)	NP_072179.1:p.Leu429=
NM_022650.3:c.1287C>T (RASA1)	NP_072179.1:p.Leu429=
NR_157068.1:n.1447+18566G>A (CCNH)
NR_157068.2:n.1447+18566G>A (CCNH)
NR_157069.1:n.1040+18566G>A (CCNH)
NR_157069.2:n.1040+18566G>A (CCNH)
NR_157070.1:n.1204+18566G>A (CCNH)
NR_157070.2:n.1204+18566G>A (CCNH)
ENST00000274376.10:c.1818C>T (RASA1)	ENSP00000274376.6:p.Leu606=
ENST00000456692.6:c.1287C>T (RASA1)	ENSP00000411221.2:p.Leu429=
ENST00000506290.1:c.1320C>T (RASA1)	ENSP00000420905.1:p.Leu440=
ENST00000512763.5:c.1317C>T (RASA1)	ENSP00000422008.1:p.Leu439=
ENST00000515800.6:c.*343C>T (RASA1)	ENSP00000423395.2:n.*343C>T
ENST00000645953.1:c.*90+18566G>A (CCNH)	ENSP00000494460.1:n.*90+18566G>A
XM_011543525.1:c.1818C>T (RASA1)	XP_011541827.1:p.Leu606=
XM_011543525.2:c.1818C>T (RASA1)	XP_011541827.1:p.Leu606=
XM_011543526.1:c.1818C>T (RASA1)	XP_011541828.1:p.Leu606=
XR_948544.1:n.743-516G>A