Canonical Allele Identifier: CA133972251
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 925788
dbSNP Id: rs755250746
gnomAD v2: 6-7583233-G-C
gnomAD v4: 6-7583000-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583000G>C , CM000668.2:g.7583000G>C GRCh38
NC_000006.11:g.7583233G>C , CM000668.1:g.7583233G>C GRCh37
NC_000006.10:g.7528232G>C NCBI36
NG_008803.1:g.46364G>C , LRG_423:g.46364G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4409G>C ENSP00000518230.1:p.Cys1470Ser
ENST00000379802.8:c.5738G>C MANE Select ENSP00000369129.3:p.Cys1913Ser
ENST00000379802.7:c.5738G>C ENSP00000369129.3:p.Cys1913Ser
ENST00000418664.2:c.3941G>C ENSP00000396591.2:p.Cys1314Ser
NM_001008844.1:c.3941G>C NP_001008844.1:p.Cys1314Ser
NM_004415.2:c.5738G>C , LRG_423t1:c.5738G>C NP_004406.2:p.Cys1913Ser
XM_011514323.1:c.4409G>C XP_011512625.1:p.Cys1470Ser
NM_001008844.2:c.3941G>C NP_001008844.1:p.Cys1314Ser
NM_001319034.1:c.4409G>C NP_001305963.1:p.Cys1470Ser
NM_004415.3:c.5738G>C NP_004406.2:p.Cys1913Ser
NM_004415.4:c.5738G>C MANE Select NP_004406.2:p.Cys1913Ser
NM_001008844.3:c.3941G>C NP_001008844.1:p.Cys1314Ser
NM_001319034.2:c.4409G>C NP_001305963.1:p.Cys1470Ser