Canonical Allele Identifier: CA3335698

Linked Data

dbSNP Id: rs201287544
gnomAD v2: 5-86648976-T-C
gnomAD v3: 5-87353159-T-C
gnomAD v4: 5-87353159-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87353159T>C , CM000667.2:g.87353159T>C GRCh38
NC_000005.9:g.86648976T>C , CM000667.1:g.86648976T>C GRCh37
NC_000005.8:g.86684732T>C NCBI36
NG_011650.1:g.89826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.1256T>C (RASA1) MANE Select ENSP00000274376.6:p.Ile419Thr
ENST00000645953.1:c.*91-34262A>G (CCNH) ENSP00000494460.1:n.*91-34262A>G
ENST00000274376.10:c.1256T>C (RASA1) ENSP00000274376.6:p.Ile419Thr
ENST00000456692.6:c.725T>C (RASA1) ENSP00000411221.2:p.Ile242Thr
ENST00000506290.1:c.758T>C (RASA1) ENSP00000420905.1:p.Ile253Thr
ENST00000509953.1:n.359T>C (RASA1)
ENST00000512763.5:c.755T>C (RASA1) ENSP00000422008.1:p.Ile252Thr
ENST00000515800.6:c.1256T>C (RASA1) ENSP00000423395.2:p.Ile419Thr
NM_002890.2:c.1256T>C (RASA1) NP_002881.1:p.Ile419Thr
NM_022650.2:c.725T>C (RASA1) NP_072179.1:p.Ile242Thr
XM_011543525.1:c.1256T>C (RASA1) XP_011541827.1:p.Ile419Thr
XM_011543526.1:c.1256T>C (RASA1) XP_011541828.1:p.Ile419Thr
XM_011543527.1:c.1256T>C (RASA1) XP_011541829.1:p.Ile419Thr
NM_001364075.1:c.934-40364A>G (CCNH) NP_001351004.1:n.934-40364A>G
NR_157068.1:n.1447+39611A>G (CCNH)
NR_157069.1:n.1040+39611A>G (CCNH)
NR_157070.1:n.1204+39611A>G (CCNH)
XM_011543525.2:c.1256T>C (RASA1) XP_011541827.1:p.Ile419Thr
XM_011543527.3:c.1256T>C (RASA1) XP_011541829.1:p.Ile419Thr
NM_001364075.2:c.934-40364A>G (CCNH) NP_001351004.1:n.934-40364A>G
NM_002890.3:c.1256T>C (RASA1) MANE Select NP_002881.1:p.Ile419Thr
NR_157068.2:n.1447+39611A>G (CCNH)
NR_157069.2:n.1040+39611A>G (CCNH)
NR_157070.2:n.1204+39611A>G (CCNH)
NM_022650.3:c.725T>C (RASA1) NP_072179.1:p.Ile242Thr