Canonical Allele Identifier: CA046707
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs778957616
gnomAD v2: 6-7583543-A-T
gnomAD v4: 6-7583310-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583310A>T , CM000668.2:g.7583310A>T GRCh38
NC_000006.11:g.7583543A>T , CM000668.1:g.7583543A>T GRCh37
NC_000006.10:g.7528542A>T NCBI36
NG_008803.1:g.46674A>T , LRG_423:g.46674A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4719A>T ENSP00000518230.1:p.Gly1573=
ENST00000379802.8:c.6048A>T MANE Select ENSP00000369129.3:p.Gly2016=
ENST00000379802.7:c.6048A>T ENSP00000369129.3:p.Gly2016=
ENST00000418664.2:c.4251A>T ENSP00000396591.2:p.Gly1417=
NM_001008844.1:c.4251A>T NP_001008844.1:p.Gly1417=
NM_004415.2:c.6048A>T , LRG_423t1:c.6048A>T NP_004406.2:p.Gly2016=
XM_011514323.1:c.4719A>T XP_011512625.1:p.Gly1573=
NM_001008844.2:c.4251A>T NP_001008844.1:p.Gly1417=
NM_001319034.1:c.4719A>T NP_001305963.1:p.Gly1573=
NM_004415.3:c.6048A>T NP_004406.2:p.Gly2016=
NM_004415.4:c.6048A>T MANE Select NP_004406.2:p.Gly2016=
NM_001008844.3:c.4251A>T NP_001008844.1:p.Gly1417=
NM_001319034.2:c.4719A>T NP_001305963.1:p.Gly1573=