Canonical Allele Identifier: CA121818057

Linked Data

dbSNP Id: rs773697160
gnomAD v2: 5-86629034-T-C
gnomAD v3: 5-87333217-T-C
gnomAD v4: 5-87333217-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87333217T>C , CM000667.2:g.87333217T>C GRCh38
NC_000005.9:g.86629034T>C , CM000667.1:g.86629034T>C GRCh37
NC_000005.8:g.86664790T>C NCBI36
NG_011650.1:g.69884T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.829-50T>C (RASA1) MANE Select ENSP00000274376.6:n.829-50T>C
ENST00000645953.1:c.*91-14320A>G (CCNH) ENSP00000494460.1:n.*91-14320A>G
ENST00000274376.10:c.829-50T>C (RASA1) ENSP00000274376.6:n.829-50T>C
ENST00000456692.6:c.298-50T>C (RASA1) ENSP00000411221.2:n.298-50T>C
ENST00000506290.1:c.331-50T>C (RASA1) ENSP00000420905.1:n.331-50T>C
ENST00000512763.5:c.328-50T>C (RASA1) ENSP00000422008.1:n.328-50T>C
ENST00000515800.6:c.829-50T>C (RASA1) ENSP00000423395.2:n.829-50T>C
NM_002890.2:c.829-50T>C (RASA1) NP_002881.1:n.829-50T>C
NM_022650.2:c.298-50T>C (RASA1) NP_072179.1:n.298-50T>C
XM_011543525.1:c.829-50T>C (RASA1) XP_011541827.1:n.829-50T>C
XM_011543526.1:c.829-50T>C (RASA1) XP_011541828.1:n.829-50T>C
XM_011543527.1:c.829-50T>C (RASA1) XP_011541829.1:n.829-50T>C
NM_001364075.1:c.934-20422A>G (CCNH) NP_001351004.1:n.934-20422A>G
NR_157068.1:n.1448-20422A>G (CCNH)
NR_157069.1:n.1041-20422A>G (CCNH)
NR_157070.1:n.1205-20422A>G (CCNH)
XM_011543525.2:c.829-50T>C (RASA1) XP_011541827.1:n.829-50T>C
XM_011543527.3:c.829-50T>C (RASA1) XP_011541829.1:n.829-50T>C
NM_001364075.2:c.934-20422A>G (CCNH) NP_001351004.1:n.934-20422A>G
NM_002890.3:c.829-50T>C (RASA1) MANE Select NP_002881.1:n.829-50T>C
NR_157068.2:n.1448-20422A>G (CCNH)
NR_157069.2:n.1041-20422A>G (CCNH)
NR_157070.2:n.1205-20422A>G (CCNH)
NM_022650.3:c.298-50T>C (RASA1) NP_072179.1:n.298-50T>C