Canonical Allele Identifier: CA121817998

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 1795724
• ClinVar RCV Id: RCV002439534
• dbSNP Id: rs925782039
• gnomAD v3: 5-87385306-C-T
• gnomAD v4: 5-87385306-C-T
• MyVariant Identifiers: chr5:g.86681123C>T (hg19) ; chr5:g.87385306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87385306C>T , CM000667.2:g.87385306C>T	GRCh38
NC_000005.9:g.86681123C>T , CM000667.1:g.86681123C>T	GRCh37
NC_000005.8:g.86716879C>T	NCBI36
NG_011650.1:g.121973C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.2764C>T (RASA1) MANE Select	ENSP00000274376.6:p.Pro922Ser
ENST00000645953.1:c.*90+7464G>A (CCNH)	ENSP00000494460.1:n.*90+7464G>A
ENST00000646883.1:c.254+7464G>A (CCNH)
ENST00000274376.10:c.2764C>T (RASA1)	ENSP00000274376.6:p.Pro922Ser
ENST00000456692.6:c.2233C>T (RASA1)	ENSP00000411221.2:p.Pro745Ser
ENST00000506290.1:c.2266C>T (RASA1)	ENSP00000420905.1:p.Pro756Ser
ENST00000512763.5:c.2263C>T (RASA1)	ENSP00000422008.1:p.Pro755Ser
ENST00000515800.6:c.*1289C>T (RASA1)	ENSP00000423395.2:n.*1289C>T
NM_002890.2:c.2764C>T (RASA1)	NP_002881.1:p.Pro922Ser
NM_022650.2:c.2233C>T (RASA1)	NP_072179.1:p.Pro745Ser
XM_011543525.1:c.2677C>T (RASA1)	XP_011541827.1:p.Pro893Ser
XM_011543526.1:c.2764C>T (RASA1)	XP_011541828.1:p.Pro922Ser
NM_001364075.1:c.933+9738G>A (CCNH)	NP_001351004.1:n.933+9738G>A
NR_157068.1:n.1447+7464G>A (CCNH)
NR_157069.1:n.1040+7464G>A (CCNH)
NR_157070.1:n.1204+7464G>A (CCNH)
XM_011543525.2:c.2677C>T (RASA1)	XP_011541827.1:p.Pro893Ser
NM_001364075.2:c.933+9738G>A (CCNH)	NP_001351004.1:n.933+9738G>A
NM_002890.3:c.2764C>T (RASA1) MANE Select	NP_002881.1:p.Pro922Ser
NR_157068.2:n.1447+7464G>A (CCNH)
NR_157069.2:n.1040+7464G>A (CCNH)
NR_157070.2:n.1204+7464G>A (CCNH)
NM_022650.3:c.2233C>T (RASA1)	NP_072179.1:p.Pro745Ser