Canonical Allele Identifier: CA383142590

Gene: ROBO3

Linked Data

• MyVariant Identifiers: chr11:g.124742921T>C (hg19) ; chr11:g.124873025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124873025T>C , CM000673.2:g.124873025T>C	GRCh38
NC_000011.9:g.124742921T>C , CM000673.1:g.124742921T>C	GRCh37
NC_000011.8:g.124248131T>C	NCBI36
NG_016214.1:g.12617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1472T>C MANE Select	ENSP00000380903.1:p.Leu491Pro
ENST00000397801.5:c.1472T>C	ENSP00000380903.1:p.Leu491Pro
ENST00000538940.5:c.1406T>C	ENSP00000441797.1:p.Leu469Pro
NM_022370.3:c.1472T>C	NP_071765.2:p.Leu491Pro
XM_011542953.1:c.2444T>C	XP_011541255.1:p.Leu815Pro
XM_017018122.1:c.1406T>C	XP_016873611.1:p.Leu469Pro
NM_022370.4:c.1472T>C MANE Select	NP_071765.2:p.Leu491Pro