Canonical Allele Identifier: CA10030824
Community Standard Title: NM_001389.5(DSCAM):c.3834C>T (p.Val1278=)
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40093737G>A , CM000683.2:g.40093737G>A GRCh38
NC_000021.8:g.41465664G>A , CM000683.1:g.41465664G>A GRCh37
NC_000021.7:g.40387534G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.3834C>T MANE Select NP_001380.2:p.Val1278=
ENST00000400454.6:c.3834C>T MANE Select ENSP00000383303.1:p.Val1278=
NM_001271534.1:c.3834C>T NP_001258463.1:p.Val1278=
NM_001271534.2:c.3834C>T NP_001258463.1:p.Val1278=
NM_001271534.3:c.3834C>T NP_001258463.1:p.Val1278=
NM_001389.3:c.3834C>T NP_001380.2:p.Val1278=
NM_001389.4:c.3834C>T NP_001380.2:p.Val1278=
NR_073202.1:n.4286C>T
NR_073202.2:n.4312C>T
NR_073202.3:n.4331C>T
ENST00000400454.5:c.3834C>T ENSP00000383303.1:p.Val1278=
ENST00000404019.2:c.3090C>T ENSP00000385342.2:p.Val1030=
ENST00000617870.4:c.3339C>T ENSP00000478698.1:p.Val1113=
XM_011529480.1:c.3846C>T XP_011527782.1:p.Val1282=
XM_011529481.1:c.1470C>T XP_011527783.1:p.Val490=
XM_017028281.1:c.3126C>T XP_016883770.1:p.Val1042=