Canonical Allele Identifier: CA362689843
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1216171793
gnomAD v2: 6-7583481-A-C
gnomAD v3: 6-7583248-A-C
gnomAD v4: 6-7583248-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583248A>C , CM000668.2:g.7583248A>C GRCh38
NC_000006.11:g.7583481A>C , CM000668.1:g.7583481A>C GRCh37
NC_000006.10:g.7528480A>C NCBI36
NG_008803.1:g.46612A>C , LRG_423:g.46612A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4657A>C ENSP00000518230.1:p.Lys1553Gln
ENST00000379802.8:c.5986A>C MANE Select ENSP00000369129.3:p.Lys1996Gln
ENST00000379802.7:c.5986A>C ENSP00000369129.3:p.Lys1996Gln
ENST00000418664.2:c.4189A>C ENSP00000396591.2:p.Lys1397Gln
NM_001008844.1:c.4189A>C NP_001008844.1:p.Lys1397Gln
NM_004415.2:c.5986A>C , LRG_423t1:c.5986A>C NP_004406.2:p.Lys1996Gln
XM_011514323.1:c.4657A>C XP_011512625.1:p.Lys1553Gln
NM_001008844.2:c.4189A>C NP_001008844.1:p.Lys1397Gln
NM_001319034.1:c.4657A>C NP_001305963.1:p.Lys1553Gln
NM_004415.3:c.5986A>C NP_004406.2:p.Lys1996Gln
NM_004415.4:c.5986A>C MANE Select NP_004406.2:p.Lys1996Gln
NM_001008844.3:c.4189A>C NP_001008844.1:p.Lys1397Gln
NM_001319034.2:c.4657A>C NP_001305963.1:p.Lys1553Gln