Canonical Allele Identifier: CA3335417
Gene: RASA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2889799
ClinVar RCV Id: RCV003760181
dbSNP Id: rs772587965
ExAC: 5:86564643 T / G
gnomAD v2: 5-86564643-T-G
gnomAD v3: 5-87268826-T-G
gnomAD v4: 5-87268826-T-G
MyVariant Identifiers: chr5:g.86564643T>G (hg19) chr5:g.87268826T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268826T>G , CM000667.2:g.87268826T>G GRCh38
NC_000005.9:g.86564643T>G , CM000667.1:g.86564643T>G GRCh37
NC_000005.8:g.86600399T>G NCBI36
NG_011650.1:g.5493T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.375T>G MANE Select ENSP00000274376.6:p.Ala125=
ENST00000274376.10:c.375T>G ENSP00000274376.6:p.Ala125=
ENST00000515800.6:c.375T>G ENSP00000423395.2:p.Ala125=
NM_002890.2:c.375T>G NP_002881.1:p.Ala125=
XM_011543525.1:c.375T>G XP_011541827.1:p.Ala125=
XM_011543526.1:c.375T>G XP_011541828.1:p.Ala125=
XM_011543527.1:c.375T>G XP_011541829.1:p.Ala125=
XM_011543525.2:c.375T>G XP_011541827.1:p.Ala125=
XM_011543527.3:c.375T>G XP_011541829.1:p.Ala125=
NM_002890.3:c.375T>G MANE Select NP_002881.1:p.Ala125=
Search 100 bp 5'
Search 100 bp 3'