Canonical Allele Identifier: CA053369
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 391896
dbSNP Id: rs143994626
gnomAD v2: 6-7566631-G-C
gnomAD v3: 6-7566398-G-C
gnomAD v4: 6-7566398-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7566398G>C , CM000668.2:g.7566398G>C GRCh38
NC_000006.11:g.7566631G>C , CM000668.1:g.7566631G>C GRCh37
NC_000006.10:g.7511630G>C NCBI36
NG_008803.1:g.29762G>C , LRG_423:g.29762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.961G>C ENSP00000518230.1:p.Val321Leu
ENST00000682228.1:n.285G>C
ENST00000379802.8:c.961G>C MANE Select ENSP00000369129.3:p.Val321Leu
ENST00000379802.7:c.961G>C ENSP00000369129.3:p.Val321Leu
ENST00000418664.2:c.961G>C ENSP00000396591.2:p.Val321Leu
NM_001008844.1:c.961G>C NP_001008844.1:p.Val321Leu
NM_004415.2:c.961G>C , LRG_423t1:c.961G>C NP_004406.2:p.Val321Leu
XM_011514323.1:c.961G>C XP_011512625.1:p.Val321Leu
NM_001008844.2:c.961G>C NP_001008844.1:p.Val321Leu
NM_001319034.1:c.961G>C NP_001305963.1:p.Val321Leu
NM_004415.3:c.961G>C NP_004406.2:p.Val321Leu
NM_004415.4:c.961G>C MANE Select NP_004406.2:p.Val321Leu
NM_001008844.3:c.961G>C NP_001008844.1:p.Val321Leu
NM_001319034.2:c.961G>C NP_001305963.1:p.Val321Leu