Canonical Allele Identifier: CA448714686
Gene: DSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.7580152A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579919A>T , CM000668.2:g.7579919A>T GRCh38
NC_000006.11:g.7580152A>T , CM000668.1:g.7580152A>T GRCh37
NC_000006.10:g.7525151A>T NCBI36
NG_008803.1:g.43283A>T , LRG_423:g.43283A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.3729A>T ENSP00000518230.1:p.Ser1243=
ENST00000379802.8:c.3729A>T MANE Select ENSP00000369129.3:p.Ser1243=
ENST00000379802.7:c.3729A>T ENSP00000369129.3:p.Ser1243=
ENST00000418664.2:c.3582+147A>T ENSP00000396591.2:n.3582+147A>T
NM_001008844.1:c.3582+147A>T NP_001008844.1:n.3582+147A>T
NM_004415.2:c.3729A>T , LRG_423t1:c.3729A>T NP_004406.2:p.Ser1243=
XM_011514323.1:c.3729A>T XP_011512625.1:p.Ser1243=
NM_001008844.2:c.3582+147A>T NP_001008844.1:n.3582+147A>T
NM_001319034.1:c.3729A>T NP_001305963.1:p.Ser1243=
NM_004415.3:c.3729A>T NP_004406.2:p.Ser1243=
NM_004415.4:c.3729A>T MANE Select NP_004406.2:p.Ser1243=
NM_001008844.3:c.3582+147A>T NP_001008844.1:n.3582+147A>T
NM_001319034.2:c.3729A>T NP_001305963.1:p.Ser1243=