Canonical Allele Identifier: CA362694968
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585610T>A , CM000668.2:g.7585610T>A GRCh38
NC_000006.11:g.7585843T>A , CM000668.1:g.7585843T>A GRCh37
NC_000006.10:g.7530842T>A NCBI36
NG_008803.1:g.48974T>A , LRG_423:g.48974T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7019T>A ENSP00000518230.1:p.Ile2340Lys
ENST00000379802.8:c.8348T>A MANE Select ENSP00000369129.3:p.Ile2783Lys
ENST00000379802.7:c.8348T>A ENSP00000369129.3:p.Ile2783Lys
ENST00000418664.2:c.6551T>A ENSP00000396591.2:p.Ile2184Lys
NM_001008844.1:c.6551T>A NP_001008844.1:p.Ile2184Lys
NM_004415.2:c.8348T>A , LRG_423t1:c.8348T>A NP_004406.2:p.Ile2783Lys
XM_011514323.1:c.7019T>A XP_011512625.1:p.Ile2340Lys
NM_001008844.2:c.6551T>A NP_001008844.1:p.Ile2184Lys
NM_001319034.1:c.7019T>A NP_001305963.1:p.Ile2340Lys
NM_004415.3:c.8348T>A NP_004406.2:p.Ile2783Lys
NM_004415.4:c.8348T>A MANE Select NP_004406.2:p.Ile2783Lys
NM_001008844.3:c.6551T>A NP_001008844.1:p.Ile2184Lys
NM_001319034.2:c.7019T>A NP_001305963.1:p.Ile2340Lys