Canonical Allele Identifier: CA16611929

Linked Data

ClinVar Variation Id: 411713
dbSNP Id: rs1060503440

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87389522C>T , CM000667.2:g.87389522C>T GRCh38
NC_000005.9:g.86685339C>T , CM000667.1:g.86685339C>T GRCh37
NC_000005.8:g.86721095C>T NCBI36
NG_011650.1:g.126189C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.3055C>T (RASA1) MANE Select ENSP00000274376.6:p.Gln1019Ter
ENST00000645953.1:c.*90+3248G>A (CCNH) ENSP00000494460.1:n.*90+3248G>A
ENST00000646883.1:c.254+3248G>A (CCNH)
ENST00000274376.10:c.3055C>T (RASA1) ENSP00000274376.6:p.Gln1019Ter
ENST00000456692.6:c.2524C>T (RASA1) ENSP00000411221.2:p.Gln842Ter
ENST00000506290.1:c.2557C>T (RASA1) ENSP00000420905.1:p.Gln853Ter
ENST00000512763.5:c.2554C>T (RASA1) ENSP00000422008.1:p.Gln852Ter
ENST00000515800.6:c.*1670C>T (RASA1) ENSP00000423395.2:n.*1670C>T
NM_002890.2:c.3055C>T (RASA1) NP_002881.1:p.Gln1019Ter
NM_022650.2:c.2524C>T (RASA1) NP_072179.1:p.Gln842Ter
XM_011543525.1:c.2968C>T (RASA1) XP_011541827.1:p.Gln990Ter
NM_001364075.1:c.933+5522G>A (CCNH) NP_001351004.1:n.933+5522G>A
NR_157068.1:n.1447+3248G>A (CCNH)
NR_157069.1:n.1040+3248G>A (CCNH)
NR_157070.1:n.1204+3248G>A (CCNH)
XM_011543525.2:c.2968C>T (RASA1) XP_011541827.1:p.Gln990Ter
NM_001364075.2:c.933+5522G>A (CCNH) NP_001351004.1:n.933+5522G>A
NM_002890.3:c.3055C>T (RASA1) MANE Select NP_002881.1:p.Gln1019Ter
NR_157068.2:n.1447+3248G>A (CCNH)
NR_157069.2:n.1040+3248G>A (CCNH)
NR_157070.2:n.1204+3248G>A (CCNH)
NM_022650.3:c.2524C>T (RASA1) NP_072179.1:p.Gln842Ter