Canonical Allele Identifier: CA445194903

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1373325614
• gnomAD v2: 5-86649001-A-C
• gnomAD v4: 5-87353184-A-C
• MyVariant Identifiers: chr5:g.86649001A>C (hg19) ; chr5:g.87353184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87353184A>C , CM000667.2:g.87353184A>C	GRCh38
NC_000005.9:g.86649001A>C , CM000667.1:g.86649001A>C	GRCh37
NC_000005.8:g.86684757A>C	NCBI36
NG_011650.1:g.89851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1281A>C (RASA1) MANE Select	ENSP00000274376.6:p.Arg427=
ENST00000645953.1:c.*91-34287T>G (CCNH)	ENSP00000494460.1:n.*91-34287T>G
ENST00000274376.10:c.1281A>C (RASA1)	ENSP00000274376.6:p.Arg427=
ENST00000456692.6:c.750A>C (RASA1)	ENSP00000411221.2:p.Arg250=
ENST00000506290.1:c.783A>C (RASA1)	ENSP00000420905.1:p.Arg261=
ENST00000509953.1:n.384A>C (RASA1)
ENST00000512763.5:c.780A>C (RASA1)	ENSP00000422008.1:p.Arg260=
ENST00000515800.6:c.1281A>C (RASA1)	ENSP00000423395.2:p.Arg427=
NM_002890.2:c.1281A>C (RASA1)	NP_002881.1:p.Arg427=
NM_022650.2:c.750A>C (RASA1)	NP_072179.1:p.Arg250=
XM_011543525.1:c.1281A>C (RASA1)	XP_011541827.1:p.Arg427=
XM_011543526.1:c.1281A>C (RASA1)	XP_011541828.1:p.Arg427=
XM_011543527.1:c.1281A>C (RASA1)	XP_011541829.1:p.Arg427=
NM_001364075.1:c.934-40389T>G (CCNH)	NP_001351004.1:n.934-40389T>G
NR_157068.1:n.1447+39586T>G (CCNH)
NR_157069.1:n.1040+39586T>G (CCNH)
NR_157070.1:n.1204+39586T>G (CCNH)
XM_011543525.2:c.1281A>C (RASA1)	XP_011541827.1:p.Arg427=
XM_011543527.3:c.1281A>C (RASA1)	XP_011541829.1:p.Arg427=
NM_001364075.2:c.934-40389T>G (CCNH)	NP_001351004.1:n.934-40389T>G
NM_002890.3:c.1281A>C (RASA1) MANE Select	NP_002881.1:p.Arg427=
NR_157068.2:n.1447+39586T>G (CCNH)
NR_157069.2:n.1040+39586T>G (CCNH)
NR_157070.2:n.1204+39586T>G (CCNH)
NM_022650.3:c.750A>C (RASA1)	NP_072179.1:p.Arg250=