Canonical Allele Identifier: CA360376513

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2918070
• ClinVar RCV Id: RCV003761122
• MyVariant Identifiers: chr5:g.86627304G>T (hg19) ; chr5:g.87331487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331487G>T , CM000667.2:g.87331487G>T	GRCh38
NC_000005.9:g.86627304G>T , CM000667.1:g.86627304G>T	GRCh37
NC_000005.8:g.86663060G>T	NCBI36
NG_011650.1:g.68154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.679G>T (RASA1) MANE Select	ENSP00000274376.6:p.Val227Phe
ENST00000645953.1:c.*91-12590C>A (CCNH)	ENSP00000494460.1:n.*91-12590C>A
ENST00000274376.10:c.679G>T (RASA1)	ENSP00000274376.6:p.Val227Phe
ENST00000456692.6:c.148G>T (RASA1)	ENSP00000411221.2:p.Val50Phe
ENST00000506290.1:c.181G>T (RASA1)	ENSP00000420905.1:p.Val61Phe
ENST00000512763.5:c.178G>T (RASA1)	ENSP00000422008.1:p.Val60Phe
ENST00000515800.6:c.679G>T (RASA1)	ENSP00000423395.2:p.Val227Phe
NM_002890.2:c.679G>T (RASA1)	NP_002881.1:p.Val227Phe
NM_022650.2:c.148G>T (RASA1)	NP_072179.1:p.Val50Phe
XM_011543525.1:c.679G>T (RASA1)	XP_011541827.1:p.Val227Phe
XM_011543526.1:c.679G>T (RASA1)	XP_011541828.1:p.Val227Phe
XM_011543527.1:c.679G>T (RASA1)	XP_011541829.1:p.Val227Phe
NM_001364075.1:c.934-18692C>A (CCNH)	NP_001351004.1:n.934-18692C>A
NR_157068.1:n.1448-18692C>A (CCNH)
NR_157069.1:n.1041-18692C>A (CCNH)
NR_157070.1:n.1205-18692C>A (CCNH)
XM_011543525.2:c.679G>T (RASA1)	XP_011541827.1:p.Val227Phe
XM_011543527.3:c.679G>T (RASA1)	XP_011541829.1:p.Val227Phe
NM_001364075.2:c.934-18692C>A (CCNH)	NP_001351004.1:n.934-18692C>A
NM_002890.3:c.679G>T (RASA1) MANE Select	NP_002881.1:p.Val227Phe
NR_157068.2:n.1448-18692C>A (CCNH)
NR_157069.2:n.1041-18692C>A (CCNH)
NR_157070.2:n.1205-18692C>A (CCNH)
NM_022650.3:c.148G>T (RASA1)	NP_072179.1:p.Val50Phe