Canonical Allele Identifier: CA4414922
Community Standard Title: NM_006989.6(RASA4):c.834C>T (p.His278=)
Gene: RASA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.102596033G>A , CM000669.2:g.102596033G>A GRCh38
NC_000007.13:g.102236480G>A , CM000669.1:g.102236480G>A GRCh37

Transcript Alleles

HGVS Amino-acid Change
NM_006989.6:c.834C>T MANE Select NP_008920.5:p.His278=
ENST00000262940.12:c.834C>T MANE Select ENSP00000262940.8:p.His278=
NM_001079877.2:c.834C>T NP_001073346.2:p.His278=
NM_006989.5:c.834C>T NP_008920.5:p.His278=
ENST00000262940.11:c.834C>T ENSP00000262940.7:p.His278=
ENST00000449970.6:c.834C>T ENSP00000412876.2:p.His278=
ENST00000461209.5:c.618C>T ENSP00000420352.1:p.His206=
ENST00000462172.5:c.618C>T ENSP00000417395.1:p.His206=
ENST00000519539.5:c.375C>T
ENST00000519541.1:c.*724C>T ENSP00000429397.1:n.*724C>T
ENST00000522801.5:c.777C>T ENSP00000430418.1:p.His259=
ENST00000523568.5:n.819C>T
XM_005250104.1:c.834C>T XP_005250161.1:p.His278=
XM_011515723.1:c.834C>T XP_011514025.1:p.His278=
XM_017011661.2:c.834C>T XP_016867150.1:p.His278=
XM_017011662.2:c.834C>T XP_016867151.1:p.His278=
XR_001744508.2:n.902C>T
XR_001744509.2:n.902C>T
XR_001744510.2:n.902C>T
XR_001744511.2:n.902C>T
XR_001744512.2:n.902C>T
XR_002956404.1:n.902C>T
XR_428164.1:n.902C>T
XR_428164.3:n.902C>T
XR_927325.1:n.902C>T