Canonical Allele Identifier: CA360376131

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87331461T>G , CM000667.2:g.87331461T>G GRCh38
NC_000005.9:g.86627278T>G , CM000667.1:g.86627278T>G GRCh37
NC_000005.8:g.86663034T>G NCBI36
NG_011650.1:g.68128T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.653T>G (RASA1) MANE Select ENSP00000274376.6:p.Leu218Arg
ENST00000645953.1:c.*91-12564A>C (CCNH) ENSP00000494460.1:n.*91-12564A>C
ENST00000274376.10:c.653T>G (RASA1) ENSP00000274376.6:p.Leu218Arg
ENST00000456692.6:c.122T>G (RASA1) ENSP00000411221.2:p.Leu41Arg
ENST00000506290.1:c.155T>G (RASA1) ENSP00000420905.1:p.Leu52Arg
ENST00000512763.5:c.152T>G (RASA1) ENSP00000422008.1:p.Leu51Arg
ENST00000515800.6:c.653T>G (RASA1) ENSP00000423395.2:p.Leu218Arg
NM_002890.2:c.653T>G (RASA1) NP_002881.1:p.Leu218Arg
NM_022650.2:c.122T>G (RASA1) NP_072179.1:p.Leu41Arg
XM_011543525.1:c.653T>G (RASA1) XP_011541827.1:p.Leu218Arg
XM_011543526.1:c.653T>G (RASA1) XP_011541828.1:p.Leu218Arg
XM_011543527.1:c.653T>G (RASA1) XP_011541829.1:p.Leu218Arg
NM_001364075.1:c.934-18666A>C (CCNH) NP_001351004.1:n.934-18666A>C
NR_157068.1:n.1448-18666A>C (CCNH)
NR_157069.1:n.1041-18666A>C (CCNH)
NR_157070.1:n.1205-18666A>C (CCNH)
XM_011543525.2:c.653T>G (RASA1) XP_011541827.1:p.Leu218Arg
XM_011543527.3:c.653T>G (RASA1) XP_011541829.1:p.Leu218Arg
NM_001364075.2:c.934-18666A>C (CCNH) NP_001351004.1:n.934-18666A>C
NM_002890.3:c.653T>G (RASA1) MANE Select NP_002881.1:p.Leu218Arg
NR_157068.2:n.1448-18666A>C (CCNH)
NR_157069.2:n.1041-18666A>C (CCNH)
NR_157070.2:n.1205-18666A>C (CCNH)
NM_022650.3:c.122T>G (RASA1) NP_072179.1:p.Leu41Arg