Canonical Allele Identifier: CA360387971

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1797924
• ClinVar RCV Id: RCV002440174
• MyVariant Identifiers: chr5:g.86685225C>G (hg19) ; chr5:g.87389408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389408C>G , CM000667.2:g.87389408C>G	GRCh38
NC_000005.9:g.86685225C>G , CM000667.1:g.86685225C>G	GRCh37
NC_000005.8:g.86720981C>G	NCBI36
NG_011650.1:g.126075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2941C>G (RASA1) MANE Select	ENSP00000274376.6:p.Pro981Ala
ENST00000645953.1:c.*90+3362G>C (CCNH)	ENSP00000494460.1:n.*90+3362G>C
ENST00000646883.1:c.254+3362G>C (CCNH)
ENST00000274376.10:c.2941C>G (RASA1)	ENSP00000274376.6:p.Pro981Ala
ENST00000456692.6:c.2410C>G (RASA1)	ENSP00000411221.2:p.Pro804Ala
ENST00000506290.1:c.2443C>G (RASA1)	ENSP00000420905.1:p.Pro815Ala
ENST00000512763.5:c.2440C>G (RASA1)	ENSP00000422008.1:p.Pro814Ala
ENST00000515800.6:c.*1556C>G (RASA1)	ENSP00000423395.2:n.*1556C>G
NM_002890.2:c.2941C>G (RASA1)	NP_002881.1:p.Pro981Ala
NM_022650.2:c.2410C>G (RASA1)	NP_072179.1:p.Pro804Ala
XM_011543525.1:c.2854C>G (RASA1)	XP_011541827.1:p.Pro952Ala
NM_001364075.1:c.933+5636G>C (CCNH)	NP_001351004.1:n.933+5636G>C
NR_157068.1:n.1447+3362G>C (CCNH)
NR_157069.1:n.1040+3362G>C (CCNH)
NR_157070.1:n.1204+3362G>C (CCNH)
XM_011543525.2:c.2854C>G (RASA1)	XP_011541827.1:p.Pro952Ala
NM_001364075.2:c.933+5636G>C (CCNH)	NP_001351004.1:n.933+5636G>C
NM_002890.3:c.2941C>G (RASA1) MANE Select	NP_002881.1:p.Pro981Ala
NR_157068.2:n.1447+3362G>C (CCNH)
NR_157069.2:n.1040+3362G>C (CCNH)
NR_157070.2:n.1204+3362G>C (CCNH)
NM_022650.3:c.2410C>G (RASA1)	NP_072179.1:p.Pro804Ala