Canonical Allele Identifier: CA2500992352

Linked Data

gnomAD v4: 5-87385298-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87385298C>T , CM000667.2:g.87385298C>T GRCh38
NC_000005.9:g.86681115C>T , CM000667.1:g.86681115C>T GRCh37
NC_000005.8:g.86716871C>T NCBI36
NG_011650.1:g.121965C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2759-3C>T (RASA1) MANE Select ENSP00000274376.6:n.2759-3C>T
ENST00000645953.1:c.*90+7472G>A (CCNH) ENSP00000494460.1:n.*90+7472G>A
ENST00000646883.1:c.254+7472G>A (CCNH)
ENST00000274376.10:c.2759-3C>T (RASA1) ENSP00000274376.6:n.2759-3C>T
ENST00000456692.6:c.2228-3C>T (RASA1) ENSP00000411221.2:n.2228-3C>T
ENST00000506290.1:c.2261-3C>T (RASA1) ENSP00000420905.1:n.2261-3C>T
ENST00000512763.5:c.2258-3C>T (RASA1) ENSP00000422008.1:n.2258-3C>T
ENST00000515800.6:c.*1284-3C>T (RASA1) ENSP00000423395.2:n.*1284-3C>T
NM_002890.2:c.2759-3C>T (RASA1) NP_002881.1:n.2759-3C>T
NM_022650.2:c.2228-3C>T (RASA1) NP_072179.1:n.2228-3C>T
XM_011543525.1:c.2672-3C>T (RASA1) XP_011541827.1:n.2672-3C>T
XM_011543526.1:c.2759-3C>T (RASA1) XP_011541828.1:n.2759-3C>T
NM_001364075.1:c.933+9746G>A (CCNH) NP_001351004.1:n.933+9746G>A
NR_157068.1:n.1447+7472G>A (CCNH)
NR_157069.1:n.1040+7472G>A (CCNH)
NR_157070.1:n.1204+7472G>A (CCNH)
XM_011543525.2:c.2672-3C>T (RASA1) XP_011541827.1:n.2672-3C>T
NM_001364075.2:c.933+9746G>A (CCNH) NP_001351004.1:n.933+9746G>A
NM_002890.3:c.2759-3C>T (RASA1) MANE Select NP_002881.1:n.2759-3C>T
NR_157068.2:n.1447+7472G>A (CCNH)
NR_157069.2:n.1040+7472G>A (CCNH)
NR_157070.2:n.1204+7472G>A (CCNH)
NM_022650.3:c.2228-3C>T (RASA1) NP_072179.1:n.2228-3C>T