Canonical Allele Identifier: CA16605140
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 390057
ClinVar RCV Id: RCV000441801
dbSNP Id: rs1057523629

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7574253G>A , CM000668.2:g.7574253G>A GRCh38
NC_000006.11:g.7574486G>A , CM000668.1:g.7574486G>A GRCh37
NC_000006.10:g.7519485G>A NCBI36
NG_008803.1:g.37617G>A , LRG_423:g.37617G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.2297+1G>A ENSP00000518230.1:n.2297+1G>A
ENST00000684395.1:n.938+1G>A
ENST00000379802.8:c.2297+1G>A MANE Select ENSP00000369129.3:n.2297+1G>A
ENST00000379802.7:c.2297+1G>A ENSP00000369129.3:n.2297+1G>A
ENST00000418664.2:c.2297+1G>A ENSP00000396591.2:n.2297+1G>A
NM_001008844.1:c.2297+1G>A NP_001008844.1:n.2297+1G>A
NM_004415.2:c.2297+1G>A , LRG_423t1:c.2297+1G>A NP_004406.2:n.2297+1G>A
XM_011514323.1:c.2297+1G>A XP_011512625.1:n.2297+1G>A
NM_001008844.2:c.2297+1G>A NP_001008844.1:n.2297+1G>A
NM_001319034.1:c.2297+1G>A NP_001305963.1:n.2297+1G>A
NM_004415.3:c.2297+1G>A NP_004406.2:n.2297+1G>A
NM_004415.4:c.2297+1G>A MANE Select NP_004406.2:n.2297+1G>A
NM_001008844.3:c.2297+1G>A NP_001008844.1:n.2297+1G>A
NM_001319034.2:c.2297+1G>A NP_001305963.1:n.2297+1G>A