Canonical Allele Identifier: CA3335668

Gene: RASA1 CCNH

Linked Data

• dbSNP Id: rs768653853
• ExAC: 5:86645073 C / A
• gnomAD v2: 5-86645073-C-A
• gnomAD v4: 5-87349256-C-A
• MyVariant Identifiers: chr5:g.86645073C>A (hg19) ; chr5:g.87349256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87349256C>A , CM000667.2:g.87349256C>A	GRCh38
NC_000005.9:g.86645073C>A , CM000667.1:g.86645073C>A	GRCh37
NC_000005.8:g.86680829C>A	NCBI36
NG_011650.1:g.85923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1145C>A (RASA1) MANE Select	ENSP00000274376.6:p.Thr382Asn
ENST00000645953.1:c.*91-30359G>T (CCNH)	ENSP00000494460.1:n.*91-30359G>T
ENST00000274376.10:c.1145C>A (RASA1)	ENSP00000274376.6:p.Thr382Asn
ENST00000456692.6:c.614C>A (RASA1)	ENSP00000411221.2:p.Thr205Asn
ENST00000506290.1:c.647C>A (RASA1)	ENSP00000420905.1:p.Thr216Asn
ENST00000509953.1:n.248C>A (RASA1)
ENST00000512763.5:c.644C>A (RASA1)	ENSP00000422008.1:p.Thr215Asn
ENST00000515800.6:c.1145C>A (RASA1)	ENSP00000423395.2:p.Thr382Asn
NM_002890.2:c.1145C>A (RASA1)	NP_002881.1:p.Thr382Asn
NM_022650.2:c.614C>A (RASA1)	NP_072179.1:p.Thr205Asn
XM_011543525.1:c.1145C>A (RASA1)	XP_011541827.1:p.Thr382Asn
XM_011543526.1:c.1145C>A (RASA1)	XP_011541828.1:p.Thr382Asn
XM_011543527.1:c.1145C>A (RASA1)	XP_011541829.1:p.Thr382Asn
NM_001364075.1:c.934-36461G>T (CCNH)	NP_001351004.1:n.934-36461G>T
NR_157068.1:n.1448-36461G>T (CCNH)
NR_157069.1:n.1041-36461G>T (CCNH)
NR_157070.1:n.1205-36461G>T (CCNH)
XM_011543525.2:c.1145C>A (RASA1)	XP_011541827.1:p.Thr382Asn
XM_011543527.3:c.1145C>A (RASA1)	XP_011541829.1:p.Thr382Asn
NM_001364075.2:c.934-36461G>T (CCNH)	NP_001351004.1:n.934-36461G>T
NM_002890.3:c.1145C>A (RASA1) MANE Select	NP_002881.1:p.Thr382Asn
NR_157068.2:n.1448-36461G>T (CCNH)
NR_157069.2:n.1041-36461G>T (CCNH)
NR_157070.2:n.1205-36461G>T (CCNH)
NM_022650.3:c.614C>A (RASA1)	NP_072179.1:p.Thr205Asn