Canonical Allele Identifier: CA360378140

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87376416C>T , CM000667.2:g.87376416C>T GRCh38
NC_000005.9:g.86672233C>T , CM000667.1:g.86672233C>T GRCh37
NC_000005.8:g.86707989C>T NCBI36
NG_011650.1:g.113083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.2035C>T (RASA1) MANE Select ENSP00000274376.6:p.Arg679Ter
ENST00000607486.1:n.765G>A
ENST00000645953.1:c.*90+16354G>A (CCNH) ENSP00000494460.1:n.*90+16354G>A
ENST00000646883.1:c.357G>A (CCNH)
ENST00000274376.10:c.2035C>T (RASA1) ENSP00000274376.6:p.Arg679Ter
ENST00000456692.6:c.1504C>T (RASA1) ENSP00000411221.2:p.Arg502Ter
ENST00000506290.1:c.1537C>T (RASA1) ENSP00000420905.1:p.Arg513Ter
ENST00000512763.5:c.1534C>T (RASA1) ENSP00000422008.1:p.Arg512Ter
ENST00000515800.6:c.*560C>T (RASA1) ENSP00000423395.2:n.*560C>T
NM_002890.2:c.2035C>T (RASA1) NP_002881.1:p.Arg679Ter
NM_022650.2:c.1504C>T (RASA1) NP_072179.1:p.Arg502Ter
XM_011543525.1:c.2035C>T (RASA1) XP_011541827.1:p.Arg679Ter
XM_011543526.1:c.2035C>T (RASA1) XP_011541828.1:p.Arg679Ter
NM_001364075.1:c.933+18628G>A (CCNH) NP_001351004.1:n.933+18628G>A
NR_157068.1:n.1447+16354G>A (CCNH)
NR_157069.1:n.1040+16354G>A (CCNH)
NR_157070.1:n.1204+16354G>A (CCNH)
XM_011543525.2:c.2035C>T (RASA1) XP_011541827.1:p.Arg679Ter
NM_001364075.2:c.933+18628G>A (CCNH) NP_001351004.1:n.933+18628G>A
NM_002890.3:c.2035C>T (RASA1) MANE Select NP_002881.1:p.Arg679Ter
NR_157068.2:n.1447+16354G>A (CCNH)
NR_157069.2:n.1040+16354G>A (CCNH)
NR_157070.2:n.1204+16354G>A (CCNH)
NM_022650.3:c.1504C>T (RASA1) NP_072179.1:p.Arg502Ter