Canonical Allele Identifier: CA383142597
Gene: ROBO3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124873028A>T , CM000673.2:g.124873028A>T GRCh38
NC_000011.9:g.124742924A>T , CM000673.1:g.124742924A>T GRCh37
NC_000011.8:g.124248134A>T NCBI36
NG_016214.1:g.12620A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1475A>T MANE Select ENSP00000380903.1:p.Gln492Leu
ENST00000397801.5:c.1475A>T ENSP00000380903.1:p.Gln492Leu
ENST00000538940.5:c.1409A>T ENSP00000441797.1:p.Gln470Leu
NM_022370.3:c.1475A>T NP_071765.2:p.Gln492Leu
XM_011542953.1:c.2447A>T XP_011541255.1:p.Gln816Leu
XM_017018122.1:c.1409A>T XP_016873611.1:p.Gln470Leu
NM_022370.4:c.1475A>T MANE Select NP_071765.2:p.Gln492Leu