Canonical Allele Identifier: CA360388109

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87389433C>G , CM000667.2:g.87389433C>G GRCh38
NC_000005.9:g.86685250C>G , CM000667.1:g.86685250C>G GRCh37
NC_000005.8:g.86721006C>G NCBI36
NG_011650.1:g.126100C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2966C>G (RASA1) MANE Select ENSP00000274376.6:p.Thr989Arg
ENST00000645953.1:c.*90+3337G>C (CCNH) ENSP00000494460.1:n.*90+3337G>C
ENST00000646883.1:c.254+3337G>C (CCNH)
ENST00000274376.10:c.2966C>G (RASA1) ENSP00000274376.6:p.Thr989Arg
ENST00000456692.6:c.2435C>G (RASA1) ENSP00000411221.2:p.Thr812Arg
ENST00000506290.1:c.2468C>G (RASA1) ENSP00000420905.1:p.Thr823Arg
ENST00000512763.5:c.2465C>G (RASA1) ENSP00000422008.1:p.Thr822Arg
ENST00000515800.6:c.*1581C>G (RASA1) ENSP00000423395.2:n.*1581C>G
NM_002890.2:c.2966C>G (RASA1) NP_002881.1:p.Thr989Arg
NM_022650.2:c.2435C>G (RASA1) NP_072179.1:p.Thr812Arg
XM_011543525.1:c.2879C>G (RASA1) XP_011541827.1:p.Thr960Arg
NM_001364075.1:c.933+5611G>C (CCNH) NP_001351004.1:n.933+5611G>C
NR_157068.1:n.1447+3337G>C (CCNH)
NR_157069.1:n.1040+3337G>C (CCNH)
NR_157070.1:n.1204+3337G>C (CCNH)
XM_011543525.2:c.2879C>G (RASA1) XP_011541827.1:p.Thr960Arg
NM_001364075.2:c.933+5611G>C (CCNH) NP_001351004.1:n.933+5611G>C
NM_002890.3:c.2966C>G (RASA1) MANE Select NP_002881.1:p.Thr989Arg
NR_157068.2:n.1447+3337G>C (CCNH)
NR_157069.2:n.1040+3337G>C (CCNH)
NR_157070.2:n.1204+3337G>C (CCNH)
NM_022650.3:c.2435C>G (RASA1) NP_072179.1:p.Thr812Arg