Canonical Allele Identifier: CA10030779
Community Standard Title: NM_001389.5(DSCAM):c.3972C>T (p.Asn1324=)
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40085762G>A , CM000683.2:g.40085762G>A GRCh38
NC_000021.8:g.41457689G>A , CM000683.1:g.41457689G>A GRCh37
NC_000021.7:g.40379559G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.3972C>T MANE Select NP_001380.2:p.Asn1324=
ENST00000400454.6:c.3972C>T MANE Select ENSP00000383303.1:p.Asn1324=
NM_001271534.1:c.3972C>T NP_001258463.1:p.Asn1324=
NM_001271534.2:c.3972C>T NP_001258463.1:p.Asn1324=
NM_001271534.3:c.3972C>T NP_001258463.1:p.Asn1324=
NM_001389.3:c.3972C>T NP_001380.2:p.Asn1324=
NM_001389.4:c.3972C>T NP_001380.2:p.Asn1324=
NR_073202.1:n.4424C>T
NR_073202.2:n.4450C>T
NR_073202.3:n.4469C>T
ENST00000400454.5:c.3972C>T ENSP00000383303.1:p.Asn1324=
ENST00000404019.2:c.3228C>T ENSP00000385342.2:p.Asn1076=
ENST00000617870.4:c.3477C>T ENSP00000478698.1:p.Asn1159=
XM_011529480.1:c.*1C>T XP_011527782.1:n.*1C>T
XM_011529481.1:c.1608C>T XP_011527783.1:p.Asn536=
XM_017028281.1:c.3264C>T XP_016883770.1:p.Asn1088=