Canonical Allele Identifier: CA3336106

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs770210520
• ExAC: 5:86681119 T / C
• gnomAD v2: 5-86681119-T-C
• gnomAD v4: 5-87385302-T-C
• MyVariant Identifiers: chr5:g.86681119T>C (hg19) ; chr5:g.87385302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385302T>C , CM000667.2:g.87385302T>C	GRCh38
NC_000005.9:g.86681119T>C , CM000667.1:g.86681119T>C	GRCh37
NC_000005.8:g.86716875T>C	NCBI36
NG_011650.1:g.121969T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2760T>C (RASA1) MANE Select	ENSP00000274376.6:p.Asp920=
ENST00000645953.1:c.*90+7468A>G (CCNH)	ENSP00000494460.1:n.*90+7468A>G
ENST00000646883.1:c.254+7468A>G (CCNH)
ENST00000274376.10:c.2760T>C (RASA1)	ENSP00000274376.6:p.Asp920=
ENST00000456692.6:c.2229T>C (RASA1)	ENSP00000411221.2:p.Asp743=
ENST00000506290.1:c.2262T>C (RASA1)	ENSP00000420905.1:p.Asp754=
ENST00000512763.5:c.2259T>C (RASA1)	ENSP00000422008.1:p.Asp753=
ENST00000515800.6:c.*1285T>C (RASA1)	ENSP00000423395.2:n.*1285T>C
NM_002890.2:c.2760T>C (RASA1)	NP_002881.1:p.Asp920=
NM_022650.2:c.2229T>C (RASA1)	NP_072179.1:p.Asp743=
XM_011543525.1:c.2673T>C (RASA1)	XP_011541827.1:p.Asp891=
XM_011543526.1:c.2760T>C (RASA1)	XP_011541828.1:p.Asp920=
NM_001364075.1:c.933+9742A>G (CCNH)	NP_001351004.1:n.933+9742A>G
NR_157068.1:n.1447+7468A>G (CCNH)
NR_157069.1:n.1040+7468A>G (CCNH)
NR_157070.1:n.1204+7468A>G (CCNH)
XM_011543525.2:c.2673T>C (RASA1)	XP_011541827.1:p.Asp891=
NM_001364075.2:c.933+9742A>G (CCNH)	NP_001351004.1:n.933+9742A>G
NM_002890.3:c.2760T>C (RASA1) MANE Select	NP_002881.1:p.Asp920=
NR_157068.2:n.1447+7468A>G (CCNH)
NR_157069.2:n.1040+7468A>G (CCNH)
NR_157070.2:n.1204+7468A>G (CCNH)
NM_022650.3:c.2229T>C (RASA1)	NP_072179.1:p.Asp743=