Canonical Allele Identifier: CA1608613576
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585186G= , CM000668.2:g.7585186G= GRCh38
NC_000006.11:g.7585419G= , CM000668.1:g.7585419G= GRCh37
NC_000006.10:g.7530418G= NCBI36
NG_008803.1:g.48550G= , LRG_423:g.48550G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6595G= ENSP00000518230.1:p.Val2199=
ENST00000379802.8:c.7924G= MANE Select ENSP00000369129.3:p.Val2642=
ENST00000379802.7:c.7924G= ENSP00000369129.3:p.Val2642=
ENST00000418664.2:c.6127G= ENSP00000396591.2:p.Val2043=
NM_001008844.1:c.6127G= NP_001008844.1:p.Val2043=
NM_004415.2:c.7924G= , LRG_423t1:c.7924G= NP_004406.2:p.Val2642=
XM_011514323.1:c.6595G= XP_011512625.1:p.Val2199=
NM_001008844.2:c.6127G= NP_001008844.1:p.Val2043=
NM_001319034.1:c.6595G= NP_001305963.1:p.Val2199=
NM_004415.3:c.7924G= NP_004406.2:p.Val2642=
NM_004415.4:c.7924G= MANE Select NP_004406.2:p.Val2642=
NM_001008844.3:c.6127G= NP_001008844.1:p.Val2043=
NM_001319034.2:c.6595G= NP_001305963.1:p.Val2199=