Canonical Allele Identifier: CA2674517375

Linked Data

gnomAD v4: 5-87374928-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87374928C>A , CM000667.2:g.87374928C>A GRCh38
NC_000005.9:g.86670745C>A , CM000667.1:g.86670745C>A GRCh37
NC_000005.8:g.86706501C>A NCBI36
NG_011650.1:g.111595C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2011+12C>A (RASA1) MANE Select ENSP00000274376.6:n.2011+12C>A
ENST00000645953.1:c.*90+17842G>T (CCNH) ENSP00000494460.1:n.*90+17842G>T
ENST00000274376.10:c.2011+12C>A (RASA1) ENSP00000274376.6:n.2011+12C>A
ENST00000456692.6:c.1480+12C>A (RASA1) ENSP00000411221.2:n.1480+12C>A
ENST00000506290.1:c.1513+12C>A (RASA1) ENSP00000420905.1:n.1513+12C>A
ENST00000512763.5:c.1510+12C>A (RASA1) ENSP00000422008.1:n.1510+12C>A
ENST00000515800.6:c.*536+12C>A (RASA1) ENSP00000423395.2:n.*536+12C>A
NM_002890.2:c.2011+12C>A (RASA1) NP_002881.1:n.2011+12C>A
NM_022650.2:c.1480+12C>A (RASA1) NP_072179.1:n.1480+12C>A
XM_011543525.1:c.2011+12C>A (RASA1) XP_011541827.1:n.2011+12C>A
XM_011543526.1:c.2011+12C>A (RASA1) XP_011541828.1:n.2011+12C>A
XR_948544.1:n.742+717G>T
NM_001364075.1:c.933+20116G>T (CCNH) NP_001351004.1:n.933+20116G>T
NR_157068.1:n.1447+17842G>T (CCNH)
NR_157069.1:n.1040+17842G>T (CCNH)
NR_157070.1:n.1204+17842G>T (CCNH)
XM_011543525.2:c.2011+12C>A (RASA1) XP_011541827.1:n.2011+12C>A
NM_001364075.2:c.933+20116G>T (CCNH) NP_001351004.1:n.933+20116G>T
NM_002890.3:c.2011+12C>A (RASA1) MANE Select NP_002881.1:n.2011+12C>A
NR_157068.2:n.1447+17842G>T (CCNH)
NR_157069.2:n.1040+17842G>T (CCNH)
NR_157070.2:n.1204+17842G>T (CCNH)
NM_022650.3:c.1480+12C>A (RASA1) NP_072179.1:n.1480+12C>A