Canonical Allele Identifier: CA362674381

Gene: DSP

Linked Data

• ClinVar Variation Id: 465917
• ClinVar RCV Id: RCV000538707
• dbSNP Id: rs1554106503
• gnomAD v4: 6-7565440-A-C
• MyVariant Identifiers: chr6:g.7565673A>C (hg19) ; chr6:g.7565440A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565440A>C , CM000668.2:g.7565440A>C	GRCh38
NC_000006.11:g.7565673A>C , CM000668.1:g.7565673A>C	GRCh37
NC_000006.10:g.7510672A>C	NCBI36
NG_008803.1:g.28804A>C , LRG_423:g.28804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.859A>C	ENSP00000518230.1:p.Asn287His
ENST00000682228.1:n.183A>C
ENST00000379802.8:c.859A>C MANE Select	ENSP00000369129.3:p.Asn287His
ENST00000379802.7:c.859A>C	ENSP00000369129.3:p.Asn287His
ENST00000418664.2:c.859A>C	ENSP00000396591.2:p.Asn287His
ENST00000506617.1:n.377A>C
NM_001008844.1:c.859A>C	NP_001008844.1:p.Asn287His
NM_004415.2:c.859A>C , LRG_423t1:c.859A>C	NP_004406.2:p.Asn287His
XM_011514323.1:c.859A>C	XP_011512625.1:p.Asn287His
NM_001008844.2:c.859A>C	NP_001008844.1:p.Asn287His
NM_001319034.1:c.859A>C	NP_001305963.1:p.Asn287His
NM_004415.3:c.859A>C	NP_004406.2:p.Asn287His
NM_004415.4:c.859A>C MANE Select	NP_004406.2:p.Asn287His
NM_001008844.3:c.859A>C	NP_001008844.1:p.Asn287His
NM_001319034.2:c.859A>C	NP_001305963.1:p.Asn287His