Canonical Allele Identifier: CA360376393

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 561692
• ClinVar RCV Id: RCV000681052
• dbSNP Id: rs1252085868
• MyVariant Identifiers: chr5:g.86627294G>C (hg19) ; chr5:g.87331477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331477G>C , CM000667.2:g.87331477G>C	GRCh38
NC_000005.9:g.86627294G>C , CM000667.1:g.86627294G>C	GRCh37
NC_000005.8:g.86663050G>C	NCBI36
NG_011650.1:g.68144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.669G>C (RASA1) MANE Select	ENSP00000274376.6:p.Gln223His
ENST00000645953.1:c.*91-12580C>G (CCNH)	ENSP00000494460.1:n.*91-12580C>G
ENST00000274376.10:c.669G>C (RASA1)	ENSP00000274376.6:p.Gln223His
ENST00000456692.6:c.138G>C (RASA1)	ENSP00000411221.2:p.Gln46His
ENST00000506290.1:c.171G>C (RASA1)	ENSP00000420905.1:p.Gln57His
ENST00000512763.5:c.168G>C (RASA1)	ENSP00000422008.1:p.Gln56His
ENST00000515800.6:c.669G>C (RASA1)	ENSP00000423395.2:p.Gln223His
NM_002890.2:c.669G>C (RASA1)	NP_002881.1:p.Gln223His
NM_022650.2:c.138G>C (RASA1)	NP_072179.1:p.Gln46His
XM_011543525.1:c.669G>C (RASA1)	XP_011541827.1:p.Gln223His
XM_011543526.1:c.669G>C (RASA1)	XP_011541828.1:p.Gln223His
XM_011543527.1:c.669G>C (RASA1)	XP_011541829.1:p.Gln223His
NM_001364075.1:c.934-18682C>G (CCNH)	NP_001351004.1:n.934-18682C>G
NR_157068.1:n.1448-18682C>G (CCNH)
NR_157069.1:n.1041-18682C>G (CCNH)
NR_157070.1:n.1205-18682C>G (CCNH)
XM_011543525.2:c.669G>C (RASA1)	XP_011541827.1:p.Gln223His
XM_011543527.3:c.669G>C (RASA1)	XP_011541829.1:p.Gln223His
NM_001364075.2:c.934-18682C>G (CCNH)	NP_001351004.1:n.934-18682C>G
NM_002890.3:c.669G>C (RASA1) MANE Select	NP_002881.1:p.Gln223His
NR_157068.2:n.1448-18682C>G (CCNH)
NR_157069.2:n.1041-18682C>G (CCNH)
NR_157070.2:n.1205-18682C>G (CCNH)
NM_022650.3:c.138G>C (RASA1)	NP_072179.1:p.Gln46His