Canonical Allele Identifier: CA1608613594
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585187T= , CM000668.2:g.7585187T= GRCh38
NC_000006.11:g.7585420T= , CM000668.1:g.7585420T= GRCh37
NC_000006.10:g.7530419T= NCBI36
NG_008803.1:g.48551T= , LRG_423:g.48551T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6596T= ENSP00000518230.1:p.Val2199=
ENST00000379802.8:c.7925T= MANE Select ENSP00000369129.3:p.Val2642=
ENST00000379802.7:c.7925T= ENSP00000369129.3:p.Val2642=
ENST00000418664.2:c.6128T= ENSP00000396591.2:p.Val2043=
NM_001008844.1:c.6128T= NP_001008844.1:p.Val2043=
NM_004415.2:c.7925T= , LRG_423t1:c.7925T= NP_004406.2:p.Val2642=
XM_011514323.1:c.6596T= XP_011512625.1:p.Val2199=
NM_001008844.2:c.6128T= NP_001008844.1:p.Val2043=
NM_001319034.1:c.6596T= NP_001305963.1:p.Val2199=
NM_004415.3:c.7925T= NP_004406.2:p.Val2642=
NM_004415.4:c.7925T= MANE Select NP_004406.2:p.Val2642=
NM_001008844.3:c.6128T= NP_001008844.1:p.Val2043=
NM_001319034.2:c.6596T= NP_001305963.1:p.Val2199=