Canonical Allele Identifier: CA360417435
Gene: RASA1 HGNC NCBI

Linked Data

dbSNP Id: rs1432412625
gnomAD v2: 5-86564730-C-A
gnomAD v4: 5-87268913-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87268913C>A , CM000667.2:g.87268913C>A GRCh38
NC_000005.9:g.86564730C>A , CM000667.1:g.86564730C>A GRCh37
NC_000005.8:g.86600486C>A NCBI36
NG_011650.1:g.5580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274376.11:c.462C>A MANE Select ENSP00000274376.6:p.Asp154Glu
ENST00000274376.10:c.462C>A ENSP00000274376.6:p.Asp154Glu
ENST00000515800.6:c.462C>A ENSP00000423395.2:p.Asp154Glu
NM_002890.2:c.462C>A NP_002881.1:p.Asp154Glu
XM_011543525.1:c.462C>A XP_011541827.1:p.Asp154Glu
XM_011543526.1:c.462C>A XP_011541828.1:p.Asp154Glu
XM_011543527.1:c.462C>A XP_011541829.1:p.Asp154Glu
XM_011543525.2:c.462C>A XP_011541827.1:p.Asp154Glu
XM_011543527.3:c.462C>A XP_011541829.1:p.Asp154Glu
NM_002890.3:c.462C>A MANE Select NP_002881.1:p.Asp154Glu