Canonical Allele Identifier: CA3335524

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs760186488
• ExAC: 5:86627227 C / G
• gnomAD v4: 5-87331410-C-G
• MyVariant Identifiers: chr5:g.86627227C>G (hg19) ; chr5:g.87331410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331410C>G , CM000667.2:g.87331410C>G	GRCh38
NC_000005.9:g.86627227C>G , CM000667.1:g.86627227C>G	GRCh37
NC_000005.8:g.86662983C>G	NCBI36
NG_011650.1:g.68077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.602C>G (RASA1) MANE Select	ENSP00000274376.6:p.Ser201Cys
ENST00000645953.1:c.*91-12513G>C (CCNH)	ENSP00000494460.1:n.*91-12513G>C
ENST00000274376.10:c.602C>G (RASA1)	ENSP00000274376.6:p.Ser201Cys
ENST00000456692.6:c.71C>G (RASA1)	ENSP00000411221.2:p.Ser24Cys
ENST00000506290.1:c.104C>G (RASA1)	ENSP00000420905.1:p.Ser35Cys
ENST00000512763.5:c.101C>G (RASA1)	ENSP00000422008.1:p.Ser34Cys
ENST00000515800.6:c.602C>G (RASA1)	ENSP00000423395.2:p.Ser201Cys
NM_002890.2:c.602C>G (RASA1)	NP_002881.1:p.Ser201Cys
NM_022650.2:c.71C>G (RASA1)	NP_072179.1:p.Ser24Cys
XM_011543525.1:c.602C>G (RASA1)	XP_011541827.1:p.Ser201Cys
XM_011543526.1:c.602C>G (RASA1)	XP_011541828.1:p.Ser201Cys
XM_011543527.1:c.602C>G (RASA1)	XP_011541829.1:p.Ser201Cys
NM_001364075.1:c.934-18615G>C (CCNH)	NP_001351004.1:n.934-18615G>C
NR_157068.1:n.1448-18615G>C (CCNH)
NR_157069.1:n.1041-18615G>C (CCNH)
NR_157070.1:n.1205-18615G>C (CCNH)
XM_011543525.2:c.602C>G (RASA1)	XP_011541827.1:p.Ser201Cys
XM_011543527.3:c.602C>G (RASA1)	XP_011541829.1:p.Ser201Cys
NM_001364075.2:c.934-18615G>C (CCNH)	NP_001351004.1:n.934-18615G>C
NM_002890.3:c.602C>G (RASA1) MANE Select	NP_002881.1:p.Ser201Cys
NR_157068.2:n.1448-18615G>C (CCNH)
NR_157069.2:n.1041-18615G>C (CCNH)
NR_157070.2:n.1205-18615G>C (CCNH)
NM_022650.3:c.71C>G (RASA1)	NP_072179.1:p.Ser24Cys