Canonical Allele Identifier: CA16612095
Gene: RASA1 HGNC NCBI
CCNH HGNC NCBI

Linked Data

ClinVar Variation Id: 411711
ClinVar RCV Id: RCV002230638
dbSNP Id: rs1060503438
MyVariant Identifiers: chr5:g.86681207G>A (hg19) chr5:g.87385390G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87385390G>A , CM000667.2:g.87385390G>A GRCh38
NC_000005.9:g.86681207G>A , CM000667.1:g.86681207G>A GRCh37
NC_000005.8:g.86716963G>A NCBI36
NG_011650.1:g.122057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2847+1G>A (RASA1) MANE Select ENSP00000274376.6:n.2847+1G>A
ENST00000645953.1:c.*90+7380C>T (CCNH) ENSP00000494460.1:n.*90+7380C>T
ENST00000646883.1:c.254+7380C>T (CCNH)
ENST00000274376.10:c.2847+1G>A (RASA1) ENSP00000274376.6:n.2847+1G>A
ENST00000456692.6:c.2316+1G>A (RASA1) ENSP00000411221.2:n.2316+1G>A
ENST00000506290.1:c.2349+1G>A (RASA1) ENSP00000420905.1:n.2349+1G>A
ENST00000512763.5:c.2346+1G>A (RASA1) ENSP00000422008.1:n.2346+1G>A
ENST00000515800.6:c.*1372+1G>A (RASA1) ENSP00000423395.2:n.*1372+1G>A
NM_002890.2:c.2847+1G>A (RASA1) NP_002881.1:n.2847+1G>A
NM_022650.2:c.2316+1G>A (RASA1) NP_072179.1:n.2316+1G>A
XM_011543525.1:c.2760+1G>A (RASA1) XP_011541827.1:n.2760+1G>A
XM_011543526.1:c.2847+1G>A (RASA1) XP_011541828.1:n.2847+1G>A
NM_001364075.1:c.933+9654C>T (CCNH) NP_001351004.1:n.933+9654C>T
NR_157068.1:n.1447+7380C>T (CCNH)
NR_157069.1:n.1040+7380C>T (CCNH)
NR_157070.1:n.1204+7380C>T (CCNH)
XM_011543525.2:c.2760+1G>A (RASA1) XP_011541827.1:n.2760+1G>A
NM_001364075.2:c.933+9654C>T (CCNH) NP_001351004.1:n.933+9654C>T
NM_002890.3:c.2847+1G>A (RASA1) MANE Select NP_002881.1:n.2847+1G>A
NR_157068.2:n.1447+7380C>T (CCNH)
NR_157069.2:n.1040+7380C>T (CCNH)
NR_157070.2:n.1204+7380C>T (CCNH)
NM_022650.3:c.2316+1G>A (RASA1) NP_072179.1:n.2316+1G>A
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