Canonical Allele Identifier: CA10031342
Community Standard Title: NM_001389.5(DSCAM):c.2130T>C (p.Asn710=)
Gene: DSCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.40296107A>G , CM000683.2:g.40296107A>G GRCh38
NC_000021.8:g.41668034A>G , CM000683.1:g.41668034A>G GRCh37
NC_000021.7:g.40589904A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001389.5:c.2130T>C MANE Select NP_001380.2:p.Asn710=
ENST00000400454.6:c.2130T>C MANE Select ENSP00000383303.1:p.Asn710=
NM_001271534.1:c.2130T>C NP_001258463.1:p.Asn710=
NM_001271534.2:c.2130T>C NP_001258463.1:p.Asn710=
NM_001271534.3:c.2130T>C NP_001258463.1:p.Asn710=
NM_001389.3:c.2130T>C NP_001380.2:p.Asn710=
NM_001389.4:c.2130T>C NP_001380.2:p.Asn710=
NR_073202.1:n.2582T>C
NR_073202.2:n.2608T>C
NR_073202.3:n.2627T>C
ENST00000400454.5:c.2130T>C ENSP00000383303.1:p.Asn710=
ENST00000404019.2:c.1386T>C ENSP00000385342.2:p.Asn462=
ENST00000617870.4:c.1635T>C ENSP00000478698.1:p.Asn545=
XM_011529480.1:c.2142T>C XP_011527782.1:p.Asn714=
XM_011529481.1:c.-180T>C XP_011527783.1:n.-180T>C
XM_017028281.1:c.1422T>C XP_016883770.1:p.Asn474=