Canonical Allele Identifier: CA828075221
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1186080399
gnomAD v3: 6-7576860-A-T
gnomAD v4: 6-7576860-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7576860A>T , CM000668.2:g.7576860A>T GRCh38
NC_000006.11:g.7577093A>T , CM000668.1:g.7577093A>T GRCh37
NC_000006.10:g.7522092A>T NCBI36
NG_008803.1:g.40224A>T , LRG_423:g.40224A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.2794-99A>T ENSP00000518230.1:n.2794-99A>T
ENST00000379802.8:c.2794-99A>T MANE Select ENSP00000369129.3:n.2794-99A>T
ENST00000379802.7:c.2794-99A>T ENSP00000369129.3:n.2794-99A>T
ENST00000418664.2:c.2794-99A>T ENSP00000396591.2:n.2794-99A>T
NM_001008844.1:c.2794-99A>T NP_001008844.1:n.2794-99A>T
NM_004415.2:c.2794-99A>T , LRG_423t1:c.2794-99A>T NP_004406.2:n.2794-99A>T
XM_011514323.1:c.2794-99A>T XP_011512625.1:n.2794-99A>T
NM_001008844.2:c.2794-99A>T NP_001008844.1:n.2794-99A>T
NM_001319034.1:c.2794-99A>T NP_001305963.1:n.2794-99A>T
NM_004415.3:c.2794-99A>T NP_004406.2:n.2794-99A>T
NM_004415.4:c.2794-99A>T MANE Select NP_004406.2:n.2794-99A>T
NM_001008844.3:c.2794-99A>T NP_001008844.1:n.2794-99A>T
NM_001319034.2:c.2794-99A>T NP_001305963.1:n.2794-99A>T