Canonical Allele Identifier: CA362689193
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1420813331
gnomAD v4: 6-7582951-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582951A>G , CM000668.2:g.7582951A>G GRCh38
NC_000006.11:g.7583184A>G , CM000668.1:g.7583184A>G GRCh37
NC_000006.10:g.7528183A>G NCBI36
NG_008803.1:g.46315A>G , LRG_423:g.46315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4360A>G ENSP00000518230.1:p.Ser1454Gly
ENST00000379802.8:c.5689A>G MANE Select ENSP00000369129.3:p.Ser1897Gly
ENST00000379802.7:c.5689A>G ENSP00000369129.3:p.Ser1897Gly
ENST00000418664.2:c.3892A>G ENSP00000396591.2:p.Ser1298Gly
NM_001008844.1:c.3892A>G NP_001008844.1:p.Ser1298Gly
NM_004415.2:c.5689A>G , LRG_423t1:c.5689A>G NP_004406.2:p.Ser1897Gly
XM_011514323.1:c.4360A>G XP_011512625.1:p.Ser1454Gly
NM_001008844.2:c.3892A>G NP_001008844.1:p.Ser1298Gly
NM_001319034.1:c.4360A>G NP_001305963.1:p.Ser1454Gly
NM_004415.3:c.5689A>G NP_004406.2:p.Ser1897Gly
NM_004415.4:c.5689A>G MANE Select NP_004406.2:p.Ser1897Gly
NM_001008844.3:c.3892A>G NP_001008844.1:p.Ser1298Gly
NM_001319034.2:c.4360A>G NP_001305963.1:p.Ser1454Gly