Canonical Allele Identifier: CA1608620328
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1758889357
gnomAD v4: 6-7567252-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567252A>G , CM000668.2:g.7567252A>G GRCh38
NC_000006.11:g.7567485A>G , CM000668.1:g.7567485A>G GRCh37
NC_000006.10:g.7512484A>G NCBI36
NG_008803.1:g.30616A>G , LRG_423:g.30616A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1045-102A>G ENSP00000518230.1:n.1045-102A>G
ENST00000682228.1:n.369-102A>G
ENST00000379802.8:c.1045-102A>G MANE Select ENSP00000369129.3:n.1045-102A>G
ENST00000379802.7:c.1045-102A>G ENSP00000369129.3:n.1045-102A>G
ENST00000418664.2:c.1045-102A>G ENSP00000396591.2:n.1045-102A>G
NM_001008844.1:c.1045-102A>G NP_001008844.1:n.1045-102A>G
NM_004415.2:c.1045-102A>G , LRG_423t1:c.1045-102A>G NP_004406.2:n.1045-102A>G
XM_011514323.1:c.1045-102A>G XP_011512625.1:n.1045-102A>G
NM_001008844.2:c.1045-102A>G NP_001008844.1:n.1045-102A>G
NM_001319034.1:c.1045-102A>G NP_001305963.1:n.1045-102A>G
NM_004415.3:c.1045-102A>G NP_004406.2:n.1045-102A>G
NM_004415.4:c.1045-102A>G MANE Select NP_004406.2:n.1045-102A>G
NM_001008844.3:c.1045-102A>G NP_001008844.1:n.1045-102A>G
NM_001319034.2:c.1045-102A>G NP_001305963.1:n.1045-102A>G