Canonical Allele Identifier: CA360388683

Gene: RASA1 CCNH

Linked Data

• MyVariant Identifiers: chr5:g.86685343A>C (hg19) ; chr5:g.87389526A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389526A>C , CM000667.2:g.87389526A>C	GRCh38
NC_000005.9:g.86685343A>C , CM000667.1:g.86685343A>C	GRCh37
NC_000005.8:g.86721099A>C	NCBI36
NG_011650.1:g.126193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.3059A>C (RASA1) MANE Select	ENSP00000274376.6:p.Gln1020Pro
ENST00000645953.1:c.*90+3244T>G (CCNH)	ENSP00000494460.1:n.*90+3244T>G
ENST00000646883.1:c.254+3244T>G (CCNH)
ENST00000274376.10:c.3059A>C (RASA1)	ENSP00000274376.6:p.Gln1020Pro
ENST00000456692.6:c.2528A>C (RASA1)	ENSP00000411221.2:p.Gln843Pro
ENST00000506290.1:c.2561A>C (RASA1)	ENSP00000420905.1:p.Gln854Pro
ENST00000512763.5:c.2558A>C (RASA1)	ENSP00000422008.1:p.Gln853Pro
ENST00000515800.6:c.*1674A>C (RASA1)	ENSP00000423395.2:n.*1674A>C
NM_002890.2:c.3059A>C (RASA1)	NP_002881.1:p.Gln1020Pro
NM_022650.2:c.2528A>C (RASA1)	NP_072179.1:p.Gln843Pro
XM_011543525.1:c.2972A>C (RASA1)	XP_011541827.1:p.Gln991Pro
NM_001364075.1:c.933+5518T>G (CCNH)	NP_001351004.1:n.933+5518T>G
NR_157068.1:n.1447+3244T>G (CCNH)
NR_157069.1:n.1040+3244T>G (CCNH)
NR_157070.1:n.1204+3244T>G (CCNH)
XM_011543525.2:c.2972A>C (RASA1)	XP_011541827.1:p.Gln991Pro
NM_001364075.2:c.933+5518T>G (CCNH)	NP_001351004.1:n.933+5518T>G
NM_002890.3:c.3059A>C (RASA1) MANE Select	NP_002881.1:p.Gln1020Pro
NR_157068.2:n.1447+3244T>G (CCNH)
NR_157069.2:n.1040+3244T>G (CCNH)
NR_157070.2:n.1204+3244T>G (CCNH)
NM_022650.3:c.2528A>C (RASA1)	NP_072179.1:p.Gln843Pro