Canonical Allele Identifier: CA3335401
Gene: RASA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2882456
ClinVar RCV Id: RCV003759582
dbSNP Id: rs772725212
ExAC: 5:86564609 T / C
gnomAD v2: 5-86564609-T-C
gnomAD v4: 5-87268792-T-C
MyVariant Identifiers: chr5:g.86564609T>C (hg19) chr5:g.87268792T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268792T>C , CM000667.2:g.87268792T>C GRCh38
NC_000005.9:g.86564609T>C , CM000667.1:g.86564609T>C GRCh37
NC_000005.8:g.86600365T>C NCBI36
NG_011650.1:g.5459T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.341T>C MANE Select ENSP00000274376.6:p.Met114Thr
ENST00000274376.10:c.341T>C ENSP00000274376.6:p.Met114Thr
ENST00000515800.6:c.341T>C ENSP00000423395.2:p.Met114Thr
NM_002890.2:c.341T>C NP_002881.1:p.Met114Thr
XM_011543525.1:c.341T>C XP_011541827.1:p.Met114Thr
XM_011543526.1:c.341T>C XP_011541828.1:p.Met114Thr
XM_011543527.1:c.341T>C XP_011541829.1:p.Met114Thr
XM_011543525.2:c.341T>C XP_011541827.1:p.Met114Thr
XM_011543527.3:c.341T>C XP_011541829.1:p.Met114Thr
NM_002890.3:c.341T>C MANE Select NP_002881.1:p.Met114Thr
Search 100 bp 5'
Search 100 bp 3'