Canonical Allele Identifier: CA2677219504
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs2113669047
gnomAD v4: 6-7565273-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565273G>T , CM000668.2:g.7565273G>T GRCh38
NC_000006.11:g.7565506G>T , CM000668.1:g.7565506G>T GRCh37
NC_000006.10:g.7510505G>T NCBI36
NG_008803.1:g.28637G>T , LRG_423:g.28637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.778-86G>T ENSP00000518230.1:n.778-86G>T
ENST00000682228.1:n.16G>T
ENST00000379802.8:c.778-86G>T MANE Select ENSP00000369129.3:n.778-86G>T
ENST00000379802.7:c.778-86G>T ENSP00000369129.3:n.778-86G>T
ENST00000418664.2:c.778-86G>T ENSP00000396591.2:n.778-86G>T
ENST00000506617.1:n.296-86G>T
NM_001008844.1:c.778-86G>T NP_001008844.1:n.778-86G>T
NM_004415.2:c.778-86G>T , LRG_423t1:c.778-86G>T NP_004406.2:n.778-86G>T
XM_011514323.1:c.778-86G>T XP_011512625.1:n.778-86G>T
NM_001008844.2:c.778-86G>T NP_001008844.1:n.778-86G>T
NM_001319034.1:c.778-86G>T NP_001305963.1:n.778-86G>T
NM_004415.3:c.778-86G>T NP_004406.2:n.778-86G>T
NM_004415.4:c.778-86G>T MANE Select NP_004406.2:n.778-86G>T
NM_001008844.3:c.778-86G>T NP_001008844.1:n.778-86G>T
NM_001319034.2:c.778-86G>T NP_001305963.1:n.778-86G>T