Canonical Allele Identifier: CA121808971
Community Standard Title: NM_002890.3(RASA1):c.2011+149T>C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87375065T>C , CM000667.2:g.87375065T>C GRCh38
NC_000005.9:g.86670882T>C , CM000667.1:g.86670882T>C GRCh37
NC_000005.8:g.86706638T>C NCBI36
NG_011650.1:g.111732T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002890.3:c.2011+149T>C (RASA1) MANE Select NP_002881.1:n.2011+149T>C
ENST00000274376.11:c.2011+149T>C (RASA1) MANE Select ENSP00000274376.6:n.2011+149T>C
NM_001364075.1:c.933+19979A>G (CCNH) NP_001351004.1:n.933+19979A>G
NM_001364075.2:c.933+19979A>G (CCNH) NP_001351004.1:n.933+19979A>G
NM_002890.2:c.2011+149T>C (RASA1) NP_002881.1:n.2011+149T>C
NM_022650.2:c.1480+149T>C (RASA1) NP_072179.1:n.1480+149T>C
NM_022650.3:c.1480+149T>C (RASA1) NP_072179.1:n.1480+149T>C
NR_157068.1:n.1447+17705A>G (CCNH)
NR_157068.2:n.1447+17705A>G (CCNH)
NR_157069.1:n.1040+17705A>G (CCNH)
NR_157069.2:n.1040+17705A>G (CCNH)
NR_157070.1:n.1204+17705A>G (CCNH)
NR_157070.2:n.1204+17705A>G (CCNH)
ENST00000274376.10:c.2011+149T>C (RASA1) ENSP00000274376.6:n.2011+149T>C
ENST00000456692.6:c.1480+149T>C (RASA1) ENSP00000411221.2:n.1480+149T>C
ENST00000506290.1:c.1513+149T>C (RASA1) ENSP00000420905.1:n.1513+149T>C
ENST00000512763.5:c.1510+149T>C (RASA1) ENSP00000422008.1:n.1510+149T>C
ENST00000515800.6:c.*536+149T>C (RASA1) ENSP00000423395.2:n.*536+149T>C
ENST00000645953.1:c.*90+17705A>G (CCNH) ENSP00000494460.1:n.*90+17705A>G
XM_011543525.1:c.2011+149T>C (RASA1) XP_011541827.1:n.2011+149T>C
XM_011543525.2:c.2011+149T>C (RASA1) XP_011541827.1:n.2011+149T>C
XM_011543526.1:c.2011+149T>C (RASA1) XP_011541828.1:n.2011+149T>C
XR_948544.1:n.742+580A>G