Canonical Allele Identifier: CA2674517884

Linked Data

gnomAD v4: 5-87379917-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87379917A>C , CM000667.2:g.87379917A>C GRCh38
NC_000005.9:g.86675734A>C , CM000667.1:g.86675734A>C GRCh37
NC_000005.8:g.86711490A>C NCBI36
NG_011650.1:g.116584A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.2603+67A>C (RASA1) MANE Select ENSP00000274376.6:n.2603+67A>C
ENST00000645953.1:c.*90+12853T>G (CCNH) ENSP00000494460.1:n.*90+12853T>G
ENST00000646883.1:c.255-3399T>G (CCNH)
ENST00000274376.10:c.2603+67A>C (RASA1) ENSP00000274376.6:n.2603+67A>C
ENST00000456692.6:c.2072+67A>C (RASA1) ENSP00000411221.2:n.2072+67A>C
ENST00000506290.1:c.2105+67A>C (RASA1) ENSP00000420905.1:n.2105+67A>C
ENST00000512763.5:c.2102+67A>C (RASA1) ENSP00000422008.1:n.2102+67A>C
ENST00000515800.6:c.*1128+67A>C (RASA1) ENSP00000423395.2:n.*1128+67A>C
NM_002890.2:c.2603+67A>C (RASA1) NP_002881.1:n.2603+67A>C
NM_022650.2:c.2072+67A>C (RASA1) NP_072179.1:n.2072+67A>C
XM_011543525.1:c.2603+67A>C (RASA1) XP_011541827.1:n.2603+67A>C
XM_011543526.1:c.2603+67A>C (RASA1) XP_011541828.1:n.2603+67A>C
NM_001364075.1:c.933+15127T>G (CCNH) NP_001351004.1:n.933+15127T>G
NR_157068.1:n.1447+12853T>G (CCNH)
NR_157069.1:n.1040+12853T>G (CCNH)
NR_157070.1:n.1204+12853T>G (CCNH)
XM_011543525.2:c.2603+67A>C (RASA1) XP_011541827.1:n.2603+67A>C
NM_001364075.2:c.933+15127T>G (CCNH) NP_001351004.1:n.933+15127T>G
NM_002890.3:c.2603+67A>C (RASA1) MANE Select NP_002881.1:n.2603+67A>C
NR_157068.2:n.1447+12853T>G (CCNH)
NR_157069.2:n.1040+12853T>G (CCNH)
NR_157070.2:n.1204+12853T>G (CCNH)
NM_022650.3:c.2072+67A>C (RASA1) NP_072179.1:n.2072+67A>C