Canonical Allele Identifier: CA3335499

Linked Data

dbSNP Id: rs187755504
gnomAD v2: 5-86627064-C-T
gnomAD v4: 5-87331247-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87331247C>T , CM000667.2:g.87331247C>T GRCh38
NC_000005.9:g.86627064C>T , CM000667.1:g.86627064C>T GRCh37
NC_000005.8:g.86662820C>T NCBI36
NG_011650.1:g.67914C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.540-101C>T (RASA1) MANE Select ENSP00000274376.6:n.540-101C>T
ENST00000645953.1:c.*91-12350G>A (CCNH) ENSP00000494460.1:n.*91-12350G>A
ENST00000274376.10:c.540-101C>T (RASA1) ENSP00000274376.6:n.540-101C>T
ENST00000456692.6:c.9-101C>T (RASA1) ENSP00000411221.2:n.9-101C>T
ENST00000506290.1:c.42-101C>T (RASA1) ENSP00000420905.1:n.42-101C>T
ENST00000512763.5:c.39-101C>T (RASA1) ENSP00000422008.1:n.39-101C>T
ENST00000515800.6:c.540-101C>T (RASA1) ENSP00000423395.2:n.540-101C>T
NM_002890.2:c.540-101C>T (RASA1) NP_002881.1:n.540-101C>T
NM_022650.2:c.9-101C>T (RASA1) NP_072179.1:n.9-101C>T
XM_011543525.1:c.540-101C>T (RASA1) XP_011541827.1:n.540-101C>T
XM_011543526.1:c.540-101C>T (RASA1) XP_011541828.1:n.540-101C>T
XM_011543527.1:c.540-101C>T (RASA1) XP_011541829.1:n.540-101C>T
NM_001364075.1:c.934-18452G>A (CCNH) NP_001351004.1:n.934-18452G>A
NR_157068.1:n.1448-18452G>A (CCNH)
NR_157069.1:n.1041-18452G>A (CCNH)
NR_157070.1:n.1205-18452G>A (CCNH)
XM_011543525.2:c.540-101C>T (RASA1) XP_011541827.1:n.540-101C>T
XM_011543527.3:c.540-101C>T (RASA1) XP_011541829.1:n.540-101C>T
NM_001364075.2:c.934-18452G>A (CCNH) NP_001351004.1:n.934-18452G>A
NM_002890.3:c.540-101C>T (RASA1) MANE Select NP_002881.1:n.540-101C>T
NR_157068.2:n.1448-18452G>A (CCNH)
NR_157069.2:n.1041-18452G>A (CCNH)
NR_157070.2:n.1205-18452G>A (CCNH)
NM_022650.3:c.9-101C>T (RASA1) NP_072179.1:n.9-101C>T