Canonical Allele Identifier: CA133948053
Community Standard Title: NM_004415.4(DSP):c.243C>T (p.Cys81=)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7555790C>T , CM000668.2:g.7555790C>T GRCh38
NC_000006.11:g.7556023C>T , CM000668.1:g.7556023C>T GRCh37
NC_000006.10:g.7501022C>T NCBI36
NG_008803.1:g.19154C>T , LRG_423:g.19154C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.243C>T MANE Select NP_004406.2:p.Cys81=
ENST00000379802.8:c.243C>T MANE Select ENSP00000369129.3:p.Cys81=
NM_001008844.1:c.243C>T NP_001008844.1:p.Cys81=
NM_001008844.2:c.243C>T NP_001008844.1:p.Cys81=
NM_001008844.3:c.243C>T NP_001008844.1:p.Cys81=
NM_001319034.1:c.243C>T NP_001305963.1:p.Cys81=
NM_001319034.2:c.243C>T NP_001305963.1:p.Cys81=
NM_004415.2:c.243C>T , LRG_423t1:c.243C>T NP_004406.2:p.Cys81=
NM_004415.3:c.243C>T NP_004406.2:p.Cys81=
ENST00000379802.7:c.243C>T ENSP00000369129.3:p.Cys81=
ENST00000418664.2:c.243C>T ENSP00000396591.2:p.Cys81=
ENST00000683563.1:n.135C>T
ENST00000683682.1:c.138C>T ENSP00000508162.1:p.Cys46=
ENST00000683682.2:c.243C>T ENSP00000508162.2:p.Cys81=
ENST00000710359.1:c.243C>T ENSP00000518230.1:p.Cys81=
XM_011514323.1:c.243C>T XP_011512625.1:p.Cys81=