Canonical Allele Identifier: CA560883192
Community Standard Title: NM_002890.3(RASA1):c.2690+14A>G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87380609A>G , CM000667.2:g.87380609A>G GRCh38
NC_000005.9:g.86676426A>G , CM000667.1:g.86676426A>G GRCh37
NC_000005.8:g.86712182A>G NCBI36
NG_011650.1:g.117276A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002890.3:c.2690+14A>G (RASA1) MANE Select NP_002881.1:n.2690+14A>G
ENST00000274376.11:c.2690+14A>G (RASA1) MANE Select ENSP00000274376.6:n.2690+14A>G
NM_001364075.1:c.933+14435T>C (CCNH) NP_001351004.1:n.933+14435T>C
NM_001364075.2:c.933+14435T>C (CCNH) NP_001351004.1:n.933+14435T>C
NM_002890.2:c.2690+14A>G (RASA1) NP_002881.1:n.2690+14A>G
NM_022650.2:c.2159+14A>G (RASA1) NP_072179.1:n.2159+14A>G
NM_022650.3:c.2159+14A>G (RASA1) NP_072179.1:n.2159+14A>G
NR_157068.1:n.1447+12161T>C (CCNH)
NR_157068.2:n.1447+12161T>C (CCNH)
NR_157069.1:n.1040+12161T>C (CCNH)
NR_157069.2:n.1040+12161T>C (CCNH)
NR_157070.1:n.1204+12161T>C (CCNH)
NR_157070.2:n.1204+12161T>C (CCNH)
ENST00000274376.10:c.2690+14A>G (RASA1) ENSP00000274376.6:n.2690+14A>G
ENST00000456692.6:c.2159+14A>G (RASA1) ENSP00000411221.2:n.2159+14A>G
ENST00000506290.1:c.2192+14A>G (RASA1) ENSP00000420905.1:n.2192+14A>G
ENST00000512763.5:c.2189+14A>G (RASA1) ENSP00000422008.1:n.2189+14A>G
ENST00000515800.6:c.*1215+14A>G (RASA1) ENSP00000423395.2:n.*1215+14A>G
ENST00000645953.1:c.*90+12161T>C (CCNH) ENSP00000494460.1:n.*90+12161T>C
ENST00000646883.1:c.255-4091T>C (CCNH)
XM_011543525.1:c.2603+759A>G (RASA1) XP_011541827.1:n.2603+759A>G
XM_011543525.2:c.2603+759A>G (RASA1) XP_011541827.1:n.2603+759A>G
XM_011543526.1:c.2690+14A>G (RASA1) XP_011541828.1:n.2690+14A>G