Canonical Allele Identifier: CA1085719431
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1758412178
gnomAD v3: 6-7553902-C-G
gnomAD v4: 6-7553902-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7553902C>G , CM000668.2:g.7553902C>G GRCh38
NC_000006.11:g.7554135C>G , CM000668.1:g.7554135C>G GRCh37
NC_000006.10:g.7499134C>G NCBI36
NG_008803.1:g.17266C>G , LRG_423:g.17266C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683682.2:c.171-1816C>G ENSP00000508162.2:n.171-1816C>G
ENST00000710359.1:c.171-1816C>G ENSP00000518230.1:n.171-1816C>G
ENST00000683563.1:n.63-1816C>G
ENST00000683682.1:c.66-1816C>G ENSP00000508162.1:n.66-1816C>G
ENST00000379802.8:c.171-1816C>G MANE Select ENSP00000369129.3:n.171-1816C>G
ENST00000379802.7:c.171-1816C>G ENSP00000369129.3:n.171-1816C>G
ENST00000418664.2:c.171-1816C>G ENSP00000396591.2:n.171-1816C>G
NM_001008844.1:c.171-1816C>G NP_001008844.1:n.171-1816C>G
NM_004415.2:c.171-1816C>G , LRG_423t1:c.171-1816C>G NP_004406.2:n.171-1816C>G
XM_011514323.1:c.171-1816C>G XP_011512625.1:n.171-1816C>G
NM_001008844.2:c.171-1816C>G NP_001008844.1:n.171-1816C>G
NM_001319034.1:c.171-1816C>G NP_001305963.1:n.171-1816C>G
NM_004415.3:c.171-1816C>G NP_004406.2:n.171-1816C>G
NM_004415.4:c.171-1816C>G MANE Select NP_004406.2:n.171-1816C>G
NM_001008844.3:c.171-1816C>G NP_001008844.1:n.171-1816C>G
NM_001319034.2:c.171-1816C>G NP_001305963.1:n.171-1816C>G