Canonical Allele Identifier: CA565102924
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1170083943
gnomAD v2: 6-7567561-A-G
gnomAD v3: 6-7567328-A-G
gnomAD v4: 6-7567328-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567328A>G , CM000668.2:g.7567328A>G GRCh38
NC_000006.11:g.7567561A>G , CM000668.1:g.7567561A>G GRCh37
NC_000006.10:g.7512560A>G NCBI36
NG_008803.1:g.30692A>G , LRG_423:g.30692A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1045-26A>G ENSP00000518230.1:n.1045-26A>G
ENST00000682228.1:n.369-26A>G
ENST00000379802.8:c.1045-26A>G MANE Select ENSP00000369129.3:n.1045-26A>G
ENST00000379802.7:c.1045-26A>G ENSP00000369129.3:n.1045-26A>G
ENST00000418664.2:c.1045-26A>G ENSP00000396591.2:n.1045-26A>G
NM_001008844.1:c.1045-26A>G NP_001008844.1:n.1045-26A>G
NM_004415.2:c.1045-26A>G , LRG_423t1:c.1045-26A>G NP_004406.2:n.1045-26A>G
XM_011514323.1:c.1045-26A>G XP_011512625.1:n.1045-26A>G
NM_001008844.2:c.1045-26A>G NP_001008844.1:n.1045-26A>G
NM_001319034.1:c.1045-26A>G NP_001305963.1:n.1045-26A>G
NM_004415.3:c.1045-26A>G NP_004406.2:n.1045-26A>G
NM_004415.4:c.1045-26A>G MANE Select NP_004406.2:n.1045-26A>G
NM_001008844.3:c.1045-26A>G NP_001008844.1:n.1045-26A>G
NM_001319034.2:c.1045-26A>G NP_001305963.1:n.1045-26A>G