Canonical Allele Identifier: CA362689663
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 927105
dbSNP Id: rs1391409186
gnomAD v2: 6-7583398-T-G
gnomAD v4: 6-7583165-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583165T>G , CM000668.2:g.7583165T>G GRCh38
NC_000006.11:g.7583398T>G , CM000668.1:g.7583398T>G GRCh37
NC_000006.10:g.7528397T>G NCBI36
NG_008803.1:g.46529T>G , LRG_423:g.46529T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4574T>G ENSP00000518230.1:p.Phe1525Cys
ENST00000379802.8:c.5903T>G MANE Select ENSP00000369129.3:p.Phe1968Cys
ENST00000379802.7:c.5903T>G ENSP00000369129.3:p.Phe1968Cys
ENST00000418664.2:c.4106T>G ENSP00000396591.2:p.Phe1369Cys
NM_001008844.1:c.4106T>G NP_001008844.1:p.Phe1369Cys
NM_004415.2:c.5903T>G , LRG_423t1:c.5903T>G NP_004406.2:p.Phe1968Cys
XM_011514323.1:c.4574T>G XP_011512625.1:p.Phe1525Cys
NM_001008844.2:c.4106T>G NP_001008844.1:p.Phe1369Cys
NM_001319034.1:c.4574T>G NP_001305963.1:p.Phe1525Cys
NM_004415.3:c.5903T>G NP_004406.2:p.Phe1968Cys
NM_004415.4:c.5903T>G MANE Select NP_004406.2:p.Phe1968Cys
NM_001008844.3:c.4106T>G NP_001008844.1:p.Phe1369Cys
NM_001319034.2:c.4574T>G NP_001305963.1:p.Phe1525Cys