Canonical Allele Identifier: CA050483
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 859879
dbSNP Id: rs139486943
gnomAD v2: 6-7585197-G-A
gnomAD v3: 6-7584964-G-A
gnomAD v4: 6-7584964-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584964G>A , CM000668.2:g.7584964G>A GRCh38
NC_000006.11:g.7585197G>A , CM000668.1:g.7585197G>A GRCh37
NC_000006.10:g.7530196G>A NCBI36
NG_008803.1:g.48328G>A , LRG_423:g.48328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6373G>A ENSP00000518230.1:p.Gly2125Ser
ENST00000379802.8:c.7702G>A MANE Select ENSP00000369129.3:p.Gly2568Ser
ENST00000379802.7:c.7702G>A ENSP00000369129.3:p.Gly2568Ser
ENST00000418664.2:c.5905G>A ENSP00000396591.2:p.Gly1969Ser
NM_001008844.1:c.5905G>A NP_001008844.1:p.Gly1969Ser
NM_004415.2:c.7702G>A , LRG_423t1:c.7702G>A NP_004406.2:p.Gly2568Ser
XM_011514323.1:c.6373G>A XP_011512625.1:p.Gly2125Ser
NM_001008844.2:c.5905G>A NP_001008844.1:p.Gly1969Ser
NM_001319034.1:c.6373G>A NP_001305963.1:p.Gly2125Ser
NM_004415.3:c.7702G>A NP_004406.2:p.Gly2568Ser
NM_004415.4:c.7702G>A MANE Select NP_004406.2:p.Gly2568Ser
NM_001008844.3:c.5905G>A NP_001008844.1:p.Gly1969Ser
NM_001319034.2:c.6373G>A NP_001305963.1:p.Gly2125Ser