Canonical Allele Identifier: CA10622416

Linked Data

ClinVar Variation Id: 354524
dbSNP Id: rs886060842

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87378549A>C , CM000667.2:g.87378549A>C GRCh38
NC_000005.9:g.86674366A>C , CM000667.1:g.86674366A>C GRCh37
NC_000005.8:g.86710122A>C NCBI36
NG_011650.1:g.115216A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2487+11A>C (RASA1) MANE Select ENSP00000274376.6:n.2487+11A>C
ENST00000645953.1:c.*90+14221T>G (CCNH) ENSP00000494460.1:n.*90+14221T>G
ENST00000646883.1:c.255-2031T>G (CCNH)
ENST00000274376.10:c.2487+11A>C (RASA1) ENSP00000274376.6:n.2487+11A>C
ENST00000456692.6:c.1956+11A>C (RASA1) ENSP00000411221.2:n.1956+11A>C
ENST00000506290.1:c.1989+11A>C (RASA1) ENSP00000420905.1:n.1989+11A>C
ENST00000512763.5:c.1986+11A>C (RASA1) ENSP00000422008.1:n.1986+11A>C
ENST00000515800.6:c.*1012+11A>C (RASA1) ENSP00000423395.2:n.*1012+11A>C
NM_002890.2:c.2487+11A>C (RASA1) NP_002881.1:n.2487+11A>C
NM_022650.2:c.1956+11A>C (RASA1) NP_072179.1:n.1956+11A>C
XM_011543525.1:c.2487+11A>C (RASA1) XP_011541827.1:n.2487+11A>C
XM_011543526.1:c.2487+11A>C (RASA1) XP_011541828.1:n.2487+11A>C
NM_001364075.1:c.933+16495T>G (CCNH) NP_001351004.1:n.933+16495T>G
NR_157068.1:n.1447+14221T>G (CCNH)
NR_157069.1:n.1040+14221T>G (CCNH)
NR_157070.1:n.1204+14221T>G (CCNH)
XM_011543525.2:c.2487+11A>C (RASA1) XP_011541827.1:n.2487+11A>C
NM_001364075.2:c.933+16495T>G (CCNH) NP_001351004.1:n.933+16495T>G
NM_002890.3:c.2487+11A>C (RASA1) MANE Select NP_002881.1:n.2487+11A>C
NR_157068.2:n.1447+14221T>G (CCNH)
NR_157069.2:n.1040+14221T>G (CCNH)
NR_157070.2:n.1204+14221T>G (CCNH)
NM_022650.3:c.1956+11A>C (RASA1) NP_072179.1:n.1956+11A>C