Canonical Allele Identifier: CA410599143
Community Standard Title: NM_001389.5(DSCAM):c.696C>A (p.Asp232Glu)
Gene: DSCAM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.696C>A MANE Select NP_001380.2:p.Asp232Glu
ENST00000400454.6:c.696C>A MANE Select ENSP00000383303.1:p.Asp232Glu
NM_001271534.1:c.696C>A NP_001258463.1:p.Asp232Glu
NM_001271534.2:c.696C>A NP_001258463.1:p.Asp232Glu
NM_001271534.3:c.696C>A NP_001258463.1:p.Asp232Glu
NM_001389.3:c.696C>A NP_001380.2:p.Asp232Glu
NM_001389.4:c.696C>A NP_001380.2:p.Asp232Glu
NR_073202.1:n.1148C>A
NR_073202.2:n.1174C>A
NR_073202.3:n.1193C>A
ENST00000400454.5:c.696C>A ENSP00000383303.1:p.Asp232Glu
ENST00000617870.4:c.201C>A ENSP00000478698.1:p.Asp67Glu
XM_011529480.1:c.708C>A XP_011527782.1:p.Asp236Glu
XM_017028281.1:c.-13C>A XP_016883770.1:n.-13C>A