Canonical Allele Identifier: CA362684458
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7579801-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579801G>C , CM000668.2:g.7579801G>C GRCh38
NC_000006.11:g.7580034G>C , CM000668.1:g.7580034G>C GRCh37
NC_000006.10:g.7525033G>C NCBI36
NG_008803.1:g.43165G>C , LRG_423:g.43165G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3611G>C ENSP00000518230.1:p.Ser1204Thr
ENST00000379802.8:c.3611G>C MANE Select ENSP00000369129.3:p.Ser1204Thr
ENST00000379802.7:c.3611G>C ENSP00000369129.3:p.Ser1204Thr
ENST00000418664.2:c.3582+29G>C ENSP00000396591.2:n.3582+29G>C
NM_001008844.1:c.3582+29G>C NP_001008844.1:n.3582+29G>C
NM_004415.2:c.3611G>C , LRG_423t1:c.3611G>C NP_004406.2:p.Ser1204Thr
XM_011514323.1:c.3611G>C XP_011512625.1:p.Ser1204Thr
NM_001008844.2:c.3582+29G>C NP_001008844.1:n.3582+29G>C
NM_001319034.1:c.3611G>C NP_001305963.1:p.Ser1204Thr
NM_004415.3:c.3611G>C NP_004406.2:p.Ser1204Thr
NM_004415.4:c.3611G>C MANE Select NP_004406.2:p.Ser1204Thr
NM_001008844.3:c.3582+29G>C NP_001008844.1:n.3582+29G>C
NM_001319034.2:c.3611G>C NP_001305963.1:p.Ser1204Thr