Canonical Allele Identifier: CA828077209
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1334729173
gnomAD v3: 6-7569085-T-C
gnomAD v4: 6-7569085-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7569085T>C , CM000668.2:g.7569085T>C GRCh38
NC_000006.11:g.7569318T>C , CM000668.1:g.7569318T>C GRCh37
NC_000006.10:g.7514317T>C NCBI36
NG_008803.1:g.32449T>C , LRG_423:g.32449T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1420-101T>C ENSP00000518230.1:n.1420-101T>C
ENST00000379802.8:c.1420-101T>C MANE Select ENSP00000369129.3:n.1420-101T>C
ENST00000379802.7:c.1420-101T>C ENSP00000369129.3:n.1420-101T>C
ENST00000418664.2:c.1420-101T>C ENSP00000396591.2:n.1420-101T>C
NM_001008844.1:c.1420-101T>C NP_001008844.1:n.1420-101T>C
NM_004415.2:c.1420-101T>C , LRG_423t1:c.1420-101T>C NP_004406.2:n.1420-101T>C
XM_011514323.1:c.1420-101T>C XP_011512625.1:n.1420-101T>C
NM_001008844.2:c.1420-101T>C NP_001008844.1:n.1420-101T>C
NM_001319034.1:c.1420-101T>C NP_001305963.1:n.1420-101T>C
NM_004415.3:c.1420-101T>C NP_004406.2:n.1420-101T>C
NM_004415.4:c.1420-101T>C MANE Select NP_004406.2:n.1420-101T>C
NM_001008844.3:c.1420-101T>C NP_001008844.1:n.1420-101T>C
NM_001319034.2:c.1420-101T>C NP_001305963.1:n.1420-101T>C