Canonical Allele Identifier: CA1608617832
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs910514730
gnomAD v4: 6-7565714-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565714T>G , CM000668.2:g.7565714T>G GRCh38
NC_000006.11:g.7565947T>G , CM000668.1:g.7565947T>G GRCh37
NC_000006.10:g.7510946T>G NCBI36
NG_008803.1:g.29078T>G , LRG_423:g.29078T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.939+194T>G ENSP00000518230.1:n.939+194T>G
ENST00000682228.1:n.263+194T>G
ENST00000379802.8:c.939+194T>G MANE Select ENSP00000369129.3:n.939+194T>G
ENST00000379802.7:c.939+194T>G ENSP00000369129.3:n.939+194T>G
ENST00000418664.2:c.939+194T>G ENSP00000396591.2:n.939+194T>G
ENST00000506617.1:n.651T>G
NM_001008844.1:c.939+194T>G NP_001008844.1:n.939+194T>G
NM_004415.2:c.939+194T>G , LRG_423t1:c.939+194T>G NP_004406.2:n.939+194T>G
XM_011514323.1:c.939+194T>G XP_011512625.1:n.939+194T>G
NM_001008844.2:c.939+194T>G NP_001008844.1:n.939+194T>G
NM_001319034.1:c.939+194T>G NP_001305963.1:n.939+194T>G
NM_004415.3:c.939+194T>G NP_004406.2:n.939+194T>G
NM_004415.4:c.939+194T>G MANE Select NP_004406.2:n.939+194T>G
NM_001008844.3:c.939+194T>G NP_001008844.1:n.939+194T>G
NM_001319034.2:c.939+194T>G NP_001305963.1:n.939+194T>G