Canonical Allele Identifier: CA14862385
Community Standard Title: NM_001389.5(DSCAM):c.5035+328C>A
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40055397G>T , CM000683.2:g.40055397G>T GRCh38
NC_000021.8:g.41427324G>T , CM000683.1:g.41427324G>T GRCh37
NC_000021.7:g.40349194G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.5035+328C>A MANE Select NP_001380.2:n.5035+328C>A
ENST00000400454.6:c.5035+328C>A MANE Select ENSP00000383303.1:n.5035+328C>A
NM_001271534.1:c.5035+328C>A NP_001258463.1:n.5035+328C>A
NM_001271534.2:c.5035+328C>A NP_001258463.1:n.5035+328C>A
NM_001271534.3:c.5035+328C>A NP_001258463.1:n.5035+328C>A
NM_001389.3:c.5035+328C>A NP_001380.2:n.5035+328C>A
NM_001389.4:c.5035+328C>A NP_001380.2:n.5035+328C>A
NR_073202.1:n.5296+328C>A
NR_073202.2:n.5322+328C>A
NR_073202.3:n.5341+328C>A
ENST00000400454.5:c.5035+328C>A ENSP00000383303.1:n.5035+328C>A
ENST00000404019.2:c.4291+328C>A ENSP00000385342.2:n.4291+328C>A
ENST00000617870.4:c.4540+328C>A ENSP00000478698.1:n.4540+328C>A
XM_011529481.1:c.2671+328C>A XP_011527783.1:n.2671+328C>A
XM_017028281.1:c.4327+328C>A XP_016883770.1:n.4327+328C>A