Canonical Allele Identifier: CA815065130

Linked Data

dbSNP Id: rs1443981878
gnomAD v3: 5-87389357-T-G
gnomAD v4: 5-87389357-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87389357T>G , CM000667.2:g.87389357T>G GRCh38
NC_000005.9:g.86685174T>G , CM000667.1:g.86685174T>G GRCh37
NC_000005.8:g.86720930T>G NCBI36
NG_011650.1:g.126024T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.2926-36T>G (RASA1) MANE Select ENSP00000274376.6:n.2926-36T>G
ENST00000645953.1:c.*90+3413A>C (CCNH) ENSP00000494460.1:n.*90+3413A>C
ENST00000646883.1:c.254+3413A>C (CCNH)
ENST00000274376.10:c.2926-36T>G (RASA1) ENSP00000274376.6:n.2926-36T>G
ENST00000456692.6:c.2395-36T>G (RASA1) ENSP00000411221.2:n.2395-36T>G
ENST00000506290.1:c.2428-36T>G (RASA1) ENSP00000420905.1:n.2428-36T>G
ENST00000512763.5:c.2425-36T>G (RASA1) ENSP00000422008.1:n.2425-36T>G
ENST00000515800.6:c.*1505T>G (RASA1) ENSP00000423395.2:n.*1505T>G
NM_002890.2:c.2926-36T>G (RASA1) NP_002881.1:n.2926-36T>G
NM_022650.2:c.2395-36T>G (RASA1) NP_072179.1:n.2395-36T>G
XM_011543525.1:c.2839-36T>G (RASA1) XP_011541827.1:n.2839-36T>G
NM_001364075.1:c.933+5687A>C (CCNH) NP_001351004.1:n.933+5687A>C
NR_157068.1:n.1447+3413A>C (CCNH)
NR_157069.1:n.1040+3413A>C (CCNH)
NR_157070.1:n.1204+3413A>C (CCNH)
XM_011543525.2:c.2839-36T>G (RASA1) XP_011541827.1:n.2839-36T>G
NM_001364075.2:c.933+5687A>C (CCNH) NP_001351004.1:n.933+5687A>C
NM_002890.3:c.2926-36T>G (RASA1) MANE Select NP_002881.1:n.2926-36T>G
NR_157068.2:n.1447+3413A>C (CCNH)
NR_157069.2:n.1040+3413A>C (CCNH)
NR_157070.2:n.1204+3413A>C (CCNH)
NM_022650.3:c.2395-36T>G (RASA1) NP_072179.1:n.2395-36T>G