Canonical Allele Identifier: CA121822003

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 933680
• ClinVar RCV Id: RCV001201944
• dbSNP Id: rs761753589
• gnomAD v4: 5-87389410-G-A
• MyVariant Identifiers: chr5:g.86685227G>A (hg19) ; chr5:g.87389410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389410G>A , CM000667.2:g.87389410G>A	GRCh38
NC_000005.9:g.86685227G>A , CM000667.1:g.86685227G>A	GRCh37
NC_000005.8:g.86720983G>A	NCBI36
NG_011650.1:g.126077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2943G>A (RASA1) MANE Select	ENSP00000274376.6:p.Pro981=
ENST00000645953.1:c.*90+3360C>T (CCNH)	ENSP00000494460.1:n.*90+3360C>T
ENST00000646883.1:c.254+3360C>T (CCNH)
ENST00000274376.10:c.2943G>A (RASA1)	ENSP00000274376.6:p.Pro981=
ENST00000456692.6:c.2412G>A (RASA1)	ENSP00000411221.2:p.Pro804=
ENST00000506290.1:c.2445G>A (RASA1)	ENSP00000420905.1:p.Pro815=
ENST00000512763.5:c.2442G>A (RASA1)	ENSP00000422008.1:p.Pro814=
ENST00000515800.6:c.*1558G>A (RASA1)	ENSP00000423395.2:n.*1558G>A
NM_002890.2:c.2943G>A (RASA1)	NP_002881.1:p.Pro981=
NM_022650.2:c.2412G>A (RASA1)	NP_072179.1:p.Pro804=
XM_011543525.1:c.2856G>A (RASA1)	XP_011541827.1:p.Pro952=
NM_001364075.1:c.933+5634C>T (CCNH)	NP_001351004.1:n.933+5634C>T
NR_157068.1:n.1447+3360C>T (CCNH)
NR_157069.1:n.1040+3360C>T (CCNH)
NR_157070.1:n.1204+3360C>T (CCNH)
XM_011543525.2:c.2856G>A (RASA1)	XP_011541827.1:p.Pro952=
NM_001364075.2:c.933+5634C>T (CCNH)	NP_001351004.1:n.933+5634C>T
NM_002890.3:c.2943G>A (RASA1) MANE Select	NP_002881.1:p.Pro981=
NR_157068.2:n.1447+3360C>T (CCNH)
NR_157069.2:n.1040+3360C>T (CCNH)
NR_157070.2:n.1204+3360C>T (CCNH)
NM_022650.3:c.2412G>A (RASA1)	NP_072179.1:p.Pro804=