Canonical Allele Identifier: CA362690332
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583482G>A , CM000668.2:g.7583482G>A GRCh38
NC_000006.11:g.7583715G>A , CM000668.1:g.7583715G>A GRCh37
NC_000006.10:g.7528714G>A NCBI36
NG_008803.1:g.46846G>A , LRG_423:g.46846G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.4891G>A ENSP00000518230.1:p.Ala1631Thr
ENST00000379802.8:c.6220G>A MANE Select ENSP00000369129.3:p.Ala2074Thr
ENST00000379802.7:c.6220G>A ENSP00000369129.3:p.Ala2074Thr
ENST00000418664.2:c.4423G>A ENSP00000396591.2:p.Ala1475Thr
NM_001008844.1:c.4423G>A NP_001008844.1:p.Ala1475Thr
NM_004415.2:c.6220G>A , LRG_423t1:c.6220G>A NP_004406.2:p.Ala2074Thr
XM_011514323.1:c.4891G>A XP_011512625.1:p.Ala1631Thr
NM_001008844.2:c.4423G>A NP_001008844.1:p.Ala1475Thr
NM_001319034.1:c.4891G>A NP_001305963.1:p.Ala1631Thr
NM_004415.3:c.6220G>A NP_004406.2:p.Ala2074Thr
NM_004415.4:c.6220G>A MANE Select NP_004406.2:p.Ala2074Thr
NM_001008844.3:c.4423G>A NP_001008844.1:p.Ala1475Thr
NM_001319034.2:c.4891G>A NP_001305963.1:p.Ala1631Thr