Canonical Allele Identifier: CA362689902
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7583273-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583273T>A , CM000668.2:g.7583273T>A GRCh38
NC_000006.11:g.7583506T>A , CM000668.1:g.7583506T>A GRCh37
NC_000006.10:g.7528505T>A NCBI36
NG_008803.1:g.46637T>A , LRG_423:g.46637T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4682T>A ENSP00000518230.1:p.Val1561Asp
ENST00000379802.8:c.6011T>A MANE Select ENSP00000369129.3:p.Val2004Asp
ENST00000379802.7:c.6011T>A ENSP00000369129.3:p.Val2004Asp
ENST00000418664.2:c.4214T>A ENSP00000396591.2:p.Val1405Asp
NM_001008844.1:c.4214T>A NP_001008844.1:p.Val1405Asp
NM_004415.2:c.6011T>A , LRG_423t1:c.6011T>A NP_004406.2:p.Val2004Asp
XM_011514323.1:c.4682T>A XP_011512625.1:p.Val1561Asp
NM_001008844.2:c.4214T>A NP_001008844.1:p.Val1405Asp
NM_001319034.1:c.4682T>A NP_001305963.1:p.Val1561Asp
NM_004415.3:c.6011T>A NP_004406.2:p.Val2004Asp
NM_004415.4:c.6011T>A MANE Select NP_004406.2:p.Val2004Asp
NM_001008844.3:c.4214T>A NP_001008844.1:p.Val1405Asp
NM_001319034.2:c.4682T>A NP_001305963.1:p.Val1561Asp