Canonical Allele Identifier: CA445402424
Gene: RASA1 HGNC NCBI

Linked Data

dbSNP Id: rs148256526
gnomAD v4: 5-87268925-T-A
MyVariant Identifiers: chr5:g.86564742T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268925T>A , CM000667.2:g.87268925T>A GRCh38
NC_000005.9:g.86564742T>A , CM000667.1:g.86564742T>A GRCh37
NC_000005.8:g.86600498T>A NCBI36
NG_011650.1:g.5592T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.474T>A MANE Select ENSP00000274376.6:p.Ser158=
ENST00000274376.10:c.474T>A ENSP00000274376.6:p.Ser158=
ENST00000515800.6:c.474T>A ENSP00000423395.2:p.Ser158=
NM_002890.2:c.474T>A NP_002881.1:p.Ser158=
NM_022650.2:c.-123T>A NP_072179.1:n.-123T>A
XM_011543525.1:c.474T>A XP_011541827.1:p.Ser158=
XM_011543526.1:c.474T>A XP_011541828.1:p.Ser158=
XM_011543527.1:c.474T>A XP_011541829.1:p.Ser158=
XM_011543525.2:c.474T>A XP_011541827.1:p.Ser158=
XM_011543527.3:c.474T>A XP_011541829.1:p.Ser158=
NM_002890.3:c.474T>A MANE Select NP_002881.1:p.Ser158=