Canonical Allele Identifier: CA3336109

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs763619214
• ExAC: 5:86681122 T / C
• gnomAD v2: 5-86681122-T-C
• gnomAD v4: 5-87385305-T-C
• MyVariant Identifiers: chr5:g.86681122T>C (hg19) ; chr5:g.87385305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385305T>C , CM000667.2:g.87385305T>C	GRCh38
NC_000005.9:g.86681122T>C , CM000667.1:g.86681122T>C	GRCh37
NC_000005.8:g.86716878T>C	NCBI36
NG_011650.1:g.121972T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2763T>C (RASA1) MANE Select	ENSP00000274376.6:p.Ser921=
ENST00000645953.1:c.*90+7465A>G (CCNH)	ENSP00000494460.1:n.*90+7465A>G
ENST00000646883.1:c.254+7465A>G (CCNH)
ENST00000274376.10:c.2763T>C (RASA1)	ENSP00000274376.6:p.Ser921=
ENST00000456692.6:c.2232T>C (RASA1)	ENSP00000411221.2:p.Ser744=
ENST00000506290.1:c.2265T>C (RASA1)	ENSP00000420905.1:p.Ser755=
ENST00000512763.5:c.2262T>C (RASA1)	ENSP00000422008.1:p.Ser754=
ENST00000515800.6:c.*1288T>C (RASA1)	ENSP00000423395.2:n.*1288T>C
NM_002890.2:c.2763T>C (RASA1)	NP_002881.1:p.Ser921=
NM_022650.2:c.2232T>C (RASA1)	NP_072179.1:p.Ser744=
XM_011543525.1:c.2676T>C (RASA1)	XP_011541827.1:p.Ser892=
XM_011543526.1:c.2763T>C (RASA1)	XP_011541828.1:p.Ser921=
NM_001364075.1:c.933+9739A>G (CCNH)	NP_001351004.1:n.933+9739A>G
NR_157068.1:n.1447+7465A>G (CCNH)
NR_157069.1:n.1040+7465A>G (CCNH)
NR_157070.1:n.1204+7465A>G (CCNH)
XM_011543525.2:c.2676T>C (RASA1)	XP_011541827.1:p.Ser892=
NM_001364075.2:c.933+9739A>G (CCNH)	NP_001351004.1:n.933+9739A>G
NM_002890.3:c.2763T>C (RASA1) MANE Select	NP_002881.1:p.Ser921=
NR_157068.2:n.1447+7465A>G (CCNH)
NR_157069.2:n.1040+7465A>G (CCNH)
NR_157070.2:n.1204+7465A>G (CCNH)
NM_022650.3:c.2232T>C (RASA1)	NP_072179.1:p.Ser744=