Canonical Allele Identifier: CA512619243
Community Standard Title: NM_001389.5(DSCAM):c.696C>T (p.Asp232=)
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40353703G>A , CM000683.2:g.40353703G>A GRCh38
NC_000021.8:g.41725630G>A , CM000683.1:g.41725630G>A GRCh37
NC_000021.7:g.40647500G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.696C>T MANE Select NP_001380.2:p.Asp232=
ENST00000400454.6:c.696C>T MANE Select ENSP00000383303.1:p.Asp232=
NM_001271534.1:c.696C>T NP_001258463.1:p.Asp232=
NM_001271534.2:c.696C>T NP_001258463.1:p.Asp232=
NM_001271534.3:c.696C>T NP_001258463.1:p.Asp232=
NM_001389.3:c.696C>T NP_001380.2:p.Asp232=
NM_001389.4:c.696C>T NP_001380.2:p.Asp232=
NR_073202.1:n.1148C>T
NR_073202.2:n.1174C>T
NR_073202.3:n.1193C>T
ENST00000400454.5:c.696C>T ENSP00000383303.1:p.Asp232=
ENST00000617870.4:c.201C>T ENSP00000478698.1:p.Asp67=
XM_011529480.1:c.708C>T XP_011527782.1:p.Asp236=
XM_017028281.1:c.-13C>T XP_016883770.1:n.-13C>T