Canonical Allele Identifier: CA3335530

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs757065933
• ExAC: 5:86627256 C / T
• gnomAD v2: 5-86627256-C-T
• gnomAD v4: 5-87331439-C-T
• MyVariant Identifiers: chr5:g.86627256C>T (hg19) ; chr5:g.87331439C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331439C>T , CM000667.2:g.87331439C>T	GRCh38
NC_000005.9:g.86627256C>T , CM000667.1:g.86627256C>T	GRCh37
NC_000005.8:g.86663012C>T	NCBI36
NG_011650.1:g.68106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.631C>T (RASA1) MANE Select	ENSP00000274376.6:p.Arg211Trp
ENST00000645953.1:c.*91-12542G>A (CCNH)	ENSP00000494460.1:n.*91-12542G>A
ENST00000274376.10:c.631C>T (RASA1)	ENSP00000274376.6:p.Arg211Trp
ENST00000456692.6:c.100C>T (RASA1)	ENSP00000411221.2:p.Arg34Trp
ENST00000506290.1:c.133C>T (RASA1)	ENSP00000420905.1:p.Arg45Trp
ENST00000512763.5:c.130C>T (RASA1)	ENSP00000422008.1:p.Arg44Trp
ENST00000515800.6:c.631C>T (RASA1)	ENSP00000423395.2:p.Arg211Trp
NM_002890.2:c.631C>T (RASA1)	NP_002881.1:p.Arg211Trp
NM_022650.2:c.100C>T (RASA1)	NP_072179.1:p.Arg34Trp
XM_011543525.1:c.631C>T (RASA1)	XP_011541827.1:p.Arg211Trp
XM_011543526.1:c.631C>T (RASA1)	XP_011541828.1:p.Arg211Trp
XM_011543527.1:c.631C>T (RASA1)	XP_011541829.1:p.Arg211Trp
NM_001364075.1:c.934-18644G>A (CCNH)	NP_001351004.1:n.934-18644G>A
NR_157068.1:n.1448-18644G>A (CCNH)
NR_157069.1:n.1041-18644G>A (CCNH)
NR_157070.1:n.1205-18644G>A (CCNH)
XM_011543525.2:c.631C>T (RASA1)	XP_011541827.1:p.Arg211Trp
XM_011543527.3:c.631C>T (RASA1)	XP_011541829.1:p.Arg211Trp
NM_001364075.2:c.934-18644G>A (CCNH)	NP_001351004.1:n.934-18644G>A
NM_002890.3:c.631C>T (RASA1) MANE Select	NP_002881.1:p.Arg211Trp
NR_157068.2:n.1448-18644G>A (CCNH)
NR_157069.2:n.1041-18644G>A (CCNH)
NR_157070.2:n.1205-18644G>A (CCNH)
NM_022650.3:c.100C>T (RASA1)	NP_072179.1:p.Arg34Trp