Canonical Allele Identifier: CA053316

Gene: DSP

Linked Data

• ClinVar Variation Id: 1284612
• ClinVar RCV Id: RCV001700526
• dbSNP Id: rs558825586
• ExAC: 6:7566614 G / A
• gnomAD v2: 6-7566614-G-A
• gnomAD v4: 6-7566381-G-A
• COSMIC: COSM1081618
• MyVariant Identifiers: chr6:g.7566614G>A (hg19) ; chr6:g.7566381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7566381G>A , CM000668.2:g.7566381G>A	GRCh38
NC_000006.11:g.7566614G>A , CM000668.1:g.7566614G>A	GRCh37
NC_000006.10:g.7511613G>A	NCBI36
NG_008803.1:g.29745G>A , LRG_423:g.29745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.944G>A	ENSP00000518230.1:p.Arg315His
ENST00000682228.1:n.268G>A
ENST00000379802.8:c.944G>A MANE Select	ENSP00000369129.3:p.Arg315His
ENST00000379802.7:c.944G>A	ENSP00000369129.3:p.Arg315His
ENST00000418664.2:c.944G>A	ENSP00000396591.2:p.Arg315His
NM_001008844.1:c.944G>A	NP_001008844.1:p.Arg315His
NM_004415.2:c.944G>A , LRG_423t1:c.944G>A	NP_004406.2:p.Arg315His
XM_011514323.1:c.944G>A	XP_011512625.1:p.Arg315His
NM_001008844.2:c.944G>A	NP_001008844.1:p.Arg315His
NM_001319034.1:c.944G>A	NP_001305963.1:p.Arg315His
NM_004415.3:c.944G>A	NP_004406.2:p.Arg315His
NM_004415.4:c.944G>A MANE Select	NP_004406.2:p.Arg315His
NM_001008844.3:c.944G>A	NP_001008844.1:p.Arg315His
NM_001319034.2:c.944G>A	NP_001305963.1:p.Arg315His