Canonical Allele Identifier: CA10031666
Community Standard Title: NM_001389.5(DSCAM):c.696C>G (p.Asp232Glu)
Gene: DSCAM HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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