Canonical Allele Identifier: CA360364190

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs1759093753
• gnomAD v4: 5-87349351-C-T
• MyVariant Identifiers: chr5:g.86645168C>T (hg19) ; chr5:g.87349351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87349351C>T , CM000667.2:g.87349351C>T	GRCh38
NC_000005.9:g.86645168C>T , CM000667.1:g.86645168C>T	GRCh37
NC_000005.8:g.86680924C>T	NCBI36
NG_011650.1:g.86018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1240C>T (RASA1) MANE Select	ENSP00000274376.6:p.Arg414Trp
ENST00000645953.1:c.*91-30454G>A (CCNH)	ENSP00000494460.1:n.*91-30454G>A
ENST00000274376.10:c.1240C>T (RASA1)	ENSP00000274376.6:p.Arg414Trp
ENST00000456692.6:c.709C>T (RASA1)	ENSP00000411221.2:p.Arg237Trp
ENST00000506290.1:c.742C>T (RASA1)	ENSP00000420905.1:p.Arg248Trp
ENST00000509953.1:n.343C>T (RASA1)
ENST00000512763.5:c.739C>T (RASA1)	ENSP00000422008.1:p.Arg247Trp
ENST00000515800.6:c.1240C>T (RASA1)	ENSP00000423395.2:p.Arg414Trp
NM_002890.2:c.1240C>T (RASA1)	NP_002881.1:p.Arg414Trp
NM_022650.2:c.709C>T (RASA1)	NP_072179.1:p.Arg237Trp
XM_011543525.1:c.1240C>T (RASA1)	XP_011541827.1:p.Arg414Trp
XM_011543526.1:c.1240C>T (RASA1)	XP_011541828.1:p.Arg414Trp
XM_011543527.1:c.1240C>T (RASA1)	XP_011541829.1:p.Arg414Trp
NM_001364075.1:c.934-36556G>A (CCNH)	NP_001351004.1:n.934-36556G>A
NR_157068.1:n.1448-36556G>A (CCNH)
NR_157069.1:n.1041-36556G>A (CCNH)
NR_157070.1:n.1205-36556G>A (CCNH)
XM_011543525.2:c.1240C>T (RASA1)	XP_011541827.1:p.Arg414Trp
XM_011543527.3:c.1240C>T (RASA1)	XP_011541829.1:p.Arg414Trp
NM_001364075.2:c.934-36556G>A (CCNH)	NP_001351004.1:n.934-36556G>A
NM_002890.3:c.1240C>T (RASA1) MANE Select	NP_002881.1:p.Arg414Trp
NR_157068.2:n.1448-36556G>A (CCNH)
NR_157069.2:n.1041-36556G>A (CCNH)
NR_157070.2:n.1205-36556G>A (CCNH)
NM_022650.3:c.709C>T (RASA1)	NP_072179.1:p.Arg237Trp