Canonical Allele Identifier: CA005503
Community Standard Title: NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7555816A>G , CM000668.2:g.7555816A>G GRCh38
NC_000006.11:g.7556049A>G , CM000668.1:g.7556049A>G GRCh37
NC_000006.10:g.7501048A>G NCBI36
NG_008803.1:g.19180A>G , LRG_423:g.19180A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.269A>G MANE Select NP_004406.2:p.Gln90Arg
ENST00000379802.8:c.269A>G MANE Select ENSP00000369129.3:p.Gln90Arg
NM_001008844.1:c.269A>G NP_001008844.1:p.Gln90Arg
NM_001008844.2:c.269A>G NP_001008844.1:p.Gln90Arg
NM_001008844.3:c.269A>G NP_001008844.1:p.Gln90Arg
NM_001319034.1:c.269A>G NP_001305963.1:p.Gln90Arg
NM_001319034.2:c.269A>G NP_001305963.1:p.Gln90Arg
NM_004415.2:c.269A>G , LRG_423t1:c.269A>G NP_004406.2:p.Gln90Arg
NM_004415.3:c.269A>G NP_004406.2:p.Gln90Arg
ENST00000379802.7:c.269A>G ENSP00000369129.3:p.Gln90Arg
ENST00000418664.2:c.269A>G ENSP00000396591.2:p.Gln90Arg
ENST00000683563.1:n.161A>G
ENST00000683682.1:c.164A>G ENSP00000508162.1:p.Gln55Arg
ENST00000683682.2:c.269A>G ENSP00000508162.2:p.Gln90Arg
ENST00000710359.1:c.269A>G ENSP00000518230.1:p.Gln90Arg
XM_011514323.1:c.269A>G XP_011512625.1:p.Gln90Arg