Canonical Allele Identifier: CA362694899
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585577A>T , CM000668.2:g.7585577A>T GRCh38
NC_000006.11:g.7585810A>T , CM000668.1:g.7585810A>T GRCh37
NC_000006.10:g.7530809A>T NCBI36
NG_008803.1:g.48941A>T , LRG_423:g.48941A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6986A>T ENSP00000518230.1:p.Lys2329Ile
ENST00000379802.8:c.8315A>T MANE Select ENSP00000369129.3:p.Lys2772Ile
ENST00000379802.7:c.8315A>T ENSP00000369129.3:p.Lys2772Ile
ENST00000418664.2:c.6518A>T ENSP00000396591.2:p.Lys2173Ile
NM_001008844.1:c.6518A>T NP_001008844.1:p.Lys2173Ile
NM_004415.2:c.8315A>T , LRG_423t1:c.8315A>T NP_004406.2:p.Lys2772Ile
XM_011514323.1:c.6986A>T XP_011512625.1:p.Lys2329Ile
NM_001008844.2:c.6518A>T NP_001008844.1:p.Lys2173Ile
NM_001319034.1:c.6986A>T NP_001305963.1:p.Lys2329Ile
NM_004415.3:c.8315A>T NP_004406.2:p.Lys2772Ile
NM_004415.4:c.8315A>T MANE Select NP_004406.2:p.Lys2772Ile
NM_001008844.3:c.6518A>T NP_001008844.1:p.Lys2173Ile
NM_001319034.2:c.6986A>T NP_001305963.1:p.Lys2329Ile