Canonical Allele Identifier: CA2674518998

Linked Data

gnomAD v4: 5-87389549-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87389549T>C , CM000667.2:g.87389549T>C GRCh38
NC_000005.9:g.86685366T>C , CM000667.1:g.86685366T>C GRCh37
NC_000005.8:g.86721122T>C NCBI36
NG_011650.1:g.126216T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.3060+22T>C (RASA1) MANE Select ENSP00000274376.6:n.3060+22T>C
ENST00000645953.1:c.*90+3221A>G (CCNH) ENSP00000494460.1:n.*90+3221A>G
ENST00000646883.1:c.254+3221A>G (CCNH)
ENST00000274376.10:c.3060+22T>C (RASA1) ENSP00000274376.6:n.3060+22T>C
ENST00000456692.6:c.2529+22T>C (RASA1) ENSP00000411221.2:n.2529+22T>C
ENST00000506290.1:c.2562+22T>C (RASA1) ENSP00000420905.1:n.2562+22T>C
ENST00000512763.5:c.2559+22T>C (RASA1) ENSP00000422008.1:n.2559+22T>C
ENST00000515800.6:c.*1675+22T>C (RASA1) ENSP00000423395.2:n.*1675+22T>C
NM_002890.2:c.3060+22T>C (RASA1) NP_002881.1:n.3060+22T>C
NM_022650.2:c.2529+22T>C (RASA1) NP_072179.1:n.2529+22T>C
XM_011543525.1:c.2973+22T>C (RASA1) XP_011541827.1:n.2973+22T>C
NM_001364075.1:c.933+5495A>G (CCNH) NP_001351004.1:n.933+5495A>G
NR_157068.1:n.1447+3221A>G (CCNH)
NR_157069.1:n.1040+3221A>G (CCNH)
NR_157070.1:n.1204+3221A>G (CCNH)
XM_011543525.2:c.2973+22T>C (RASA1) XP_011541827.1:n.2973+22T>C
NM_001364075.2:c.933+5495A>G (CCNH) NP_001351004.1:n.933+5495A>G
NM_002890.3:c.3060+22T>C (RASA1) MANE Select NP_002881.1:n.3060+22T>C
NR_157068.2:n.1447+3221A>G (CCNH)
NR_157069.2:n.1040+3221A>G (CCNH)
NR_157070.2:n.1204+3221A>G (CCNH)
NM_022650.3:c.2529+22T>C (RASA1) NP_072179.1:n.2529+22T>C