Canonical Allele Identifier: CA121821965

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2916765
• ClinVar RCV Id: RCV003760602
• dbSNP Id: rs890986927
• gnomAD v2: 5-86685197-G-A
• gnomAD v4: 5-87389380-G-A
• MyVariant Identifiers: chr5:g.86685197G>A (hg19) ; chr5:g.87389380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389380G>A , CM000667.2:g.87389380G>A	GRCh38
NC_000005.9:g.86685197G>A , CM000667.1:g.86685197G>A	GRCh37
NC_000005.8:g.86720953G>A	NCBI36
NG_011650.1:g.126047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.2926-13G>A (RASA1) MANE Select	ENSP00000274376.6:n.2926-13G>A
ENST00000645953.1:c.*90+3390C>T (CCNH)	ENSP00000494460.1:n.*90+3390C>T
ENST00000646883.1:c.254+3390C>T (CCNH)
ENST00000274376.10:c.2926-13G>A (RASA1)	ENSP00000274376.6:n.2926-13G>A
ENST00000456692.6:c.2395-13G>A (RASA1)	ENSP00000411221.2:n.2395-13G>A
ENST00000506290.1:c.2428-13G>A (RASA1)	ENSP00000420905.1:n.2428-13G>A
ENST00000512763.5:c.2425-13G>A (RASA1)	ENSP00000422008.1:n.2425-13G>A
ENST00000515800.6:c.*1528G>A (RASA1)	ENSP00000423395.2:n.*1528G>A
NM_002890.2:c.2926-13G>A (RASA1)	NP_002881.1:n.2926-13G>A
NM_022650.2:c.2395-13G>A (RASA1)	NP_072179.1:n.2395-13G>A
XM_011543525.1:c.2839-13G>A (RASA1)	XP_011541827.1:n.2839-13G>A
NM_001364075.1:c.933+5664C>T (CCNH)	NP_001351004.1:n.933+5664C>T
NR_157068.1:n.1447+3390C>T (CCNH)
NR_157069.1:n.1040+3390C>T (CCNH)
NR_157070.1:n.1204+3390C>T (CCNH)
XM_011543525.2:c.2839-13G>A (RASA1)	XP_011541827.1:n.2839-13G>A
NM_001364075.2:c.933+5664C>T (CCNH)	NP_001351004.1:n.933+5664C>T
NM_002890.3:c.2926-13G>A (RASA1) MANE Select	NP_002881.1:n.2926-13G>A
NR_157068.2:n.1447+3390C>T (CCNH)
NR_157069.2:n.1040+3390C>T (CCNH)
NR_157070.2:n.1204+3390C>T (CCNH)
NM_022650.3:c.2395-13G>A (RASA1)	NP_072179.1:n.2395-13G>A