Canonical Allele Identifier: CA3336176

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2834755
• ClinVar RCV Id: RCV003758335
• dbSNP Id: rs746507930
• ExAC: 5:86685236 A / G
• gnomAD v2: 5-86685236-A-G
• MyVariant Identifiers: chr5:g.86685236A>G (hg19) ; chr5:g.87389419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389419A>G , CM000667.2:g.87389419A>G	GRCh38
NC_000005.9:g.86685236A>G , CM000667.1:g.86685236A>G	GRCh37
NC_000005.8:g.86720992A>G	NCBI36
NG_011650.1:g.126086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2952A>G (RASA1) MANE Select	ENSP00000274376.6:p.Thr984=
ENST00000645953.1:c.*90+3351T>C (CCNH)	ENSP00000494460.1:n.*90+3351T>C
ENST00000646883.1:c.254+3351T>C (CCNH)
ENST00000274376.10:c.2952A>G (RASA1)	ENSP00000274376.6:p.Thr984=
ENST00000456692.6:c.2421A>G (RASA1)	ENSP00000411221.2:p.Thr807=
ENST00000506290.1:c.2454A>G (RASA1)	ENSP00000420905.1:p.Thr818=
ENST00000512763.5:c.2451A>G (RASA1)	ENSP00000422008.1:p.Thr817=
ENST00000515800.6:c.*1567A>G (RASA1)	ENSP00000423395.2:n.*1567A>G
NM_002890.2:c.2952A>G (RASA1)	NP_002881.1:p.Thr984=
NM_022650.2:c.2421A>G (RASA1)	NP_072179.1:p.Thr807=
XM_011543525.1:c.2865A>G (RASA1)	XP_011541827.1:p.Thr955=
NM_001364075.1:c.933+5625T>C (CCNH)	NP_001351004.1:n.933+5625T>C
NR_157068.1:n.1447+3351T>C (CCNH)
NR_157069.1:n.1040+3351T>C (CCNH)
NR_157070.1:n.1204+3351T>C (CCNH)
XM_011543525.2:c.2865A>G (RASA1)	XP_011541827.1:p.Thr955=
NM_001364075.2:c.933+5625T>C (CCNH)	NP_001351004.1:n.933+5625T>C
NM_002890.3:c.2952A>G (RASA1) MANE Select	NP_002881.1:p.Thr984=
NR_157068.2:n.1447+3351T>C (CCNH)
NR_157069.2:n.1040+3351T>C (CCNH)
NR_157070.2:n.1204+3351T>C (CCNH)
NM_022650.3:c.2421A>G (RASA1)	NP_072179.1:p.Thr807=