Canonical Allele Identifier: CA77879477
Gene: ROBO1 HGNC NCBI

Linked Data

dbSNP Id: rs147334428
gnomAD v2: 3-79668900-A-T
gnomAD v3: 3-79619750-A-T
gnomAD v4: 3-79619750-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.79619750A>T , CM000665.2:g.79619750A>T GRCh38
NC_000003.11:g.79668900A>T , CM000665.1:g.79668900A>T GRCh37
NC_000003.10:g.79751590A>T NCBI36
NG_011729.1:g.153160T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000464233.6:c.-50-29789T>A MANE Select ENSP00000420321.1:n.-50-29789T>A
ENST00000464233.5:c.-50-29789T>A ENSP00000420321.1:n.-50-29789T>A
NM_002941.3:c.-50-29789T>A NP_002932.1:n.-50-29789T>A
XM_011533976.1:c.-50-29789T>A XP_011532278.1:n.-50-29789T>A
XM_011533977.1:c.-50-29789T>A XP_011532279.1:n.-50-29789T>A
XM_011533978.1:c.-50-29789T>A XP_011532280.1:n.-50-29789T>A
XM_011533979.1:c.-50-29789T>A XP_011532281.1:n.-50-29789T>A
XM_011533980.1:c.-50-29789T>A XP_011532282.1:n.-50-29789T>A
XM_011533977.2:c.-50-29789T>A XP_011532279.1:n.-50-29789T>A
XM_017006982.1:c.-50-29789T>A XP_016862471.1:n.-50-29789T>A
XM_017006984.1:c.-50-29789T>A XP_016862473.1:n.-50-29789T>A
NM_002941.4:c.-50-29789T>A MANE Select NP_002932.1:n.-50-29789T>A