Canonical Allele Identifier: CA10627607

Gene: DSP

Linked Data

• ClinVar Variation Id: 357977
• ClinVar RCV Id: RCV000300973 ; RCV000337746 ; RCV000391883 ; RCV000402088
• dbSNP Id: rs886061751
• gnomAD v4: 6-7586183-C-A
• MyVariant Identifiers: chr6:g.7586416C>A (hg19) ; chr6:g.7586183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7586183C>A , CM000668.2:g.7586183C>A	GRCh38
NC_000006.11:g.7586416C>A , CM000668.1:g.7586416C>A	GRCh37
NC_000006.10:g.7531415C>A	NCBI36
NG_008803.1:g.49547C>A , LRG_423:g.49547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.*305C>A	ENSP00000518230.1:n.*305C>A
ENST00000379802.8:c.*305C>A MANE Select	ENSP00000369129.3:n.*305C>A
ENST00000379802.7:c.*305C>A	ENSP00000369129.3:n.*305C>A
ENST00000418664.2:c.*305C>A	ENSP00000396591.2:n.*305C>A
NM_001008844.1:c.*305C>A	NP_001008844.1:n.*305C>A
NM_004415.2:c.*305C>A , LRG_423t1:c.*305C>A	NP_004406.2:n.*305C>A
XM_011514323.1:c.*305C>A	XP_011512625.1:n.*305C>A
NM_001008844.2:c.*305C>A	NP_001008844.1:n.*305C>A
NM_001319034.1:c.*305C>A	NP_001305963.1:n.*305C>A
NM_004415.3:c.*305C>A	NP_004406.2:n.*305C>A
NM_004415.4:c.*305C>A MANE Select	NP_004406.2:n.*305C>A
NM_001008844.3:c.*305C>A	NP_001008844.1:n.*305C>A
NM_001319034.2:c.*305C>A	NP_001305963.1:n.*305C>A