Canonical Allele Identifier: CA1608609522
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1759256090
gnomAD v4: 6-7576867-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7576867G>T , CM000668.2:g.7576867G>T GRCh38
NC_000006.11:g.7577100G>T , CM000668.1:g.7577100G>T GRCh37
NC_000006.10:g.7522099G>T NCBI36
NG_008803.1:g.40231G>T , LRG_423:g.40231G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.2794-92G>T ENSP00000518230.1:n.2794-92G>T
ENST00000379802.8:c.2794-92G>T MANE Select ENSP00000369129.3:n.2794-92G>T
ENST00000379802.7:c.2794-92G>T ENSP00000369129.3:n.2794-92G>T
ENST00000418664.2:c.2794-92G>T ENSP00000396591.2:n.2794-92G>T
NM_001008844.1:c.2794-92G>T NP_001008844.1:n.2794-92G>T
NM_004415.2:c.2794-92G>T , LRG_423t1:c.2794-92G>T NP_004406.2:n.2794-92G>T
XM_011514323.1:c.2794-92G>T XP_011512625.1:n.2794-92G>T
NM_001008844.2:c.2794-92G>T NP_001008844.1:n.2794-92G>T
NM_001319034.1:c.2794-92G>T NP_001305963.1:n.2794-92G>T
NM_004415.3:c.2794-92G>T NP_004406.2:n.2794-92G>T
NM_004415.4:c.2794-92G>T MANE Select NP_004406.2:n.2794-92G>T
NM_001008844.3:c.2794-92G>T NP_001008844.1:n.2794-92G>T
NM_001319034.2:c.2794-92G>T NP_001305963.1:n.2794-92G>T