Canonical Allele Identifier: CA360388081

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87389429-A-G
• MyVariant Identifiers: chr5:g.86685246A>G (hg19) ; chr5:g.87389429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389429A>G , CM000667.2:g.87389429A>G	GRCh38
NC_000005.9:g.86685246A>G , CM000667.1:g.86685246A>G	GRCh37
NC_000005.8:g.86721002A>G	NCBI36
NG_011650.1:g.126096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2962A>G (RASA1) MANE Select	ENSP00000274376.6:p.Arg988Gly
ENST00000645953.1:c.*90+3341T>C (CCNH)	ENSP00000494460.1:n.*90+3341T>C
ENST00000646883.1:c.254+3341T>C (CCNH)
ENST00000274376.10:c.2962A>G (RASA1)	ENSP00000274376.6:p.Arg988Gly
ENST00000456692.6:c.2431A>G (RASA1)	ENSP00000411221.2:p.Arg811Gly
ENST00000506290.1:c.2464A>G (RASA1)	ENSP00000420905.1:p.Arg822Gly
ENST00000512763.5:c.2461A>G (RASA1)	ENSP00000422008.1:p.Arg821Gly
ENST00000515800.6:c.*1577A>G (RASA1)	ENSP00000423395.2:n.*1577A>G
NM_002890.2:c.2962A>G (RASA1)	NP_002881.1:p.Arg988Gly
NM_022650.2:c.2431A>G (RASA1)	NP_072179.1:p.Arg811Gly
XM_011543525.1:c.2875A>G (RASA1)	XP_011541827.1:p.Arg959Gly
NM_001364075.1:c.933+5615T>C (CCNH)	NP_001351004.1:n.933+5615T>C
NR_157068.1:n.1447+3341T>C (CCNH)
NR_157069.1:n.1040+3341T>C (CCNH)
NR_157070.1:n.1204+3341T>C (CCNH)
XM_011543525.2:c.2875A>G (RASA1)	XP_011541827.1:p.Arg959Gly
NM_001364075.2:c.933+5615T>C (CCNH)	NP_001351004.1:n.933+5615T>C
NM_002890.3:c.2962A>G (RASA1) MANE Select	NP_002881.1:p.Arg988Gly
NR_157068.2:n.1447+3341T>C (CCNH)
NR_157069.2:n.1040+3341T>C (CCNH)
NR_157070.2:n.1204+3341T>C (CCNH)
NM_022650.3:c.2431A>G (RASA1)	NP_072179.1:p.Arg811Gly