Canonical Allele Identifier: CA034541
Community Standard Title: NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7576329G>A , CM000668.2:g.7576329G>A GRCh38
NC_000006.11:g.7576562G>A , CM000668.1:g.7576562G>A GRCh37
NC_000006.10:g.7521561G>A NCBI36
NG_008803.1:g.39693G>A , LRG_423:g.39693G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.2666G>A MANE Select NP_004406.2:p.Arg889Lys
ENST00000379802.8:c.2666G>A MANE Select ENSP00000369129.3:p.Arg889Lys
NM_001008844.1:c.2666G>A NP_001008844.1:p.Arg889Lys
NM_001008844.2:c.2666G>A NP_001008844.1:p.Arg889Lys
NM_001008844.3:c.2666G>A NP_001008844.1:p.Arg889Lys
NM_001319034.1:c.2666G>A NP_001305963.1:p.Arg889Lys
NM_001319034.2:c.2666G>A NP_001305963.1:p.Arg889Lys
NM_004415.2:c.2666G>A , LRG_423t1:c.2666G>A NP_004406.2:p.Arg889Lys
NM_004415.3:c.2666G>A NP_004406.2:p.Arg889Lys
ENST00000379802.7:c.2666G>A ENSP00000369129.3:p.Arg889Lys
ENST00000418664.2:c.2666G>A ENSP00000396591.2:p.Arg889Lys
ENST00000710359.1:c.2666G>A ENSP00000518230.1:p.Arg889Lys
XM_011514323.1:c.2666G>A XP_011512625.1:p.Arg889Lys