Canonical Allele Identifier: CA383142472

Gene: ROBO3

Linked Data

• MyVariant Identifiers: chr11:g.124742869G>T (hg19) ; chr11:g.124872973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124872973G>T , CM000673.2:g.124872973G>T	GRCh38
NC_000011.9:g.124742869G>T , CM000673.1:g.124742869G>T	GRCh37
NC_000011.8:g.124248079G>T	NCBI36
NG_016214.1:g.12565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1420G>T MANE Select	ENSP00000380903.1:p.Val474Leu
ENST00000397801.5:c.1420G>T	ENSP00000380903.1:p.Val474Leu
ENST00000538940.5:c.1354G>T	ENSP00000441797.1:p.Val452Leu
NM_022370.3:c.1420G>T	NP_071765.2:p.Val474Leu
XM_011542953.1:c.2392G>T	XP_011541255.1:p.Val798Leu
XM_017018122.1:c.1354G>T	XP_016873611.1:p.Val452Leu
NM_022370.4:c.1420G>T MANE Select	NP_071765.2:p.Val474Leu