Canonical Allele Identifier: CA360387924

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87389400C>A , CM000667.2:g.87389400C>A GRCh38
NC_000005.9:g.86685217C>A , CM000667.1:g.86685217C>A GRCh37
NC_000005.8:g.86720973C>A NCBI36
NG_011650.1:g.126067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.2933C>A (RASA1) MANE Select ENSP00000274376.6:p.Pro978His
ENST00000645953.1:c.*90+3370G>T (CCNH) ENSP00000494460.1:n.*90+3370G>T
ENST00000646883.1:c.254+3370G>T (CCNH)
ENST00000274376.10:c.2933C>A (RASA1) ENSP00000274376.6:p.Pro978His
ENST00000456692.6:c.2402C>A (RASA1) ENSP00000411221.2:p.Pro801His
ENST00000506290.1:c.2435C>A (RASA1) ENSP00000420905.1:p.Pro812His
ENST00000512763.5:c.2432C>A (RASA1) ENSP00000422008.1:p.Pro811His
ENST00000515800.6:c.*1548C>A (RASA1) ENSP00000423395.2:n.*1548C>A
NM_002890.2:c.2933C>A (RASA1) NP_002881.1:p.Pro978His
NM_022650.2:c.2402C>A (RASA1) NP_072179.1:p.Pro801His
XM_011543525.1:c.2846C>A (RASA1) XP_011541827.1:p.Pro949His
NM_001364075.1:c.933+5644G>T (CCNH) NP_001351004.1:n.933+5644G>T
NR_157068.1:n.1447+3370G>T (CCNH)
NR_157069.1:n.1040+3370G>T (CCNH)
NR_157070.1:n.1204+3370G>T (CCNH)
XM_011543525.2:c.2846C>A (RASA1) XP_011541827.1:p.Pro949His
NM_001364075.2:c.933+5644G>T (CCNH) NP_001351004.1:n.933+5644G>T
NM_002890.3:c.2933C>A (RASA1) MANE Select NP_002881.1:p.Pro978His
NR_157068.2:n.1447+3370G>T (CCNH)
NR_157069.2:n.1040+3370G>T (CCNH)
NR_157070.2:n.1204+3370G>T (CCNH)
NM_022650.3:c.2402C>A (RASA1) NP_072179.1:p.Pro801His