Canonical Allele Identifier: CA10031344
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40296110G>A , CM000683.2:g.40296110G>A GRCh38
NC_000021.8:g.41668037G>A , CM000683.1:g.41668037G>A GRCh37
NC_000021.7:g.40589907G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400454.6:c.2127C>T MANE Select ENSP00000383303.1:p.Leu709=
ENST00000400454.5:c.2127C>T ENSP00000383303.1:p.Leu709=
ENST00000404019.2:c.1383C>T ENSP00000385342.2:p.Leu461=
ENST00000617870.4:c.1632C>T ENSP00000478698.1:p.Leu544=
NM_001271534.1:c.2127C>T NP_001258463.1:p.Leu709=
NM_001389.3:c.2127C>T NP_001380.2:p.Leu709=
NR_073202.1:n.2579C>T
XM_011529480.1:c.2139C>T XP_011527782.1:p.Leu713=
XM_011529481.1:c.-183C>T XP_011527783.1:n.-183C>T
NM_001271534.2:c.2127C>T NP_001258463.1:p.Leu709=
NM_001389.4:c.2127C>T NP_001380.2:p.Leu709=
NR_073202.2:n.2605C>T
XM_017028281.1:c.1419C>T XP_016883770.1:p.Leu473=
NM_001389.5:c.2127C>T MANE Select NP_001380.2:p.Leu709=
NM_001271534.3:c.2127C>T NP_001258463.1:p.Leu709=
NR_073202.3:n.2624C>T