Canonical Allele Identifier: CA2677220256
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7565740-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565740A>G , CM000668.2:g.7565740A>G GRCh38
NC_000006.11:g.7565973A>G , CM000668.1:g.7565973A>G GRCh37
NC_000006.10:g.7510972A>G NCBI36
NG_008803.1:g.29104A>G , LRG_423:g.29104A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.939+220A>G ENSP00000518230.1:n.939+220A>G
ENST00000682228.1:n.263+220A>G
ENST00000379802.8:c.939+220A>G MANE Select ENSP00000369129.3:n.939+220A>G
ENST00000379802.7:c.939+220A>G ENSP00000369129.3:n.939+220A>G
ENST00000418664.2:c.939+220A>G ENSP00000396591.2:n.939+220A>G
ENST00000506617.1:n.677A>G
NM_001008844.1:c.939+220A>G NP_001008844.1:n.939+220A>G
NM_004415.2:c.939+220A>G , LRG_423t1:c.939+220A>G NP_004406.2:n.939+220A>G
XM_011514323.1:c.939+220A>G XP_011512625.1:n.939+220A>G
NM_001008844.2:c.939+220A>G NP_001008844.1:n.939+220A>G
NM_001319034.1:c.939+220A>G NP_001305963.1:n.939+220A>G
NM_004415.3:c.939+220A>G NP_004406.2:n.939+220A>G
NM_004415.4:c.939+220A>G MANE Select NP_004406.2:n.939+220A>G
NM_001008844.3:c.939+220A>G NP_001008844.1:n.939+220A>G
NM_001319034.2:c.939+220A>G NP_001305963.1:n.939+220A>G