Canonical Allele Identifier: CA362674038

Gene: DSP

Linked Data

• ClinVar Variation Id: 689673
• ClinVar RCV Id: RCV000850426
• dbSNP Id: rs1274581796
• MyVariant Identifiers: chr6:g.7565614A>C (hg19) ; chr6:g.7565381A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565381A>C , CM000668.2:g.7565381A>C	GRCh38
NC_000006.11:g.7565614A>C , CM000668.1:g.7565614A>C	GRCh37
NC_000006.10:g.7510613A>C	NCBI36
NG_008803.1:g.28745A>C , LRG_423:g.28745A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.800A>C	ENSP00000518230.1:p.Asp267Ala
ENST00000682228.1:n.124A>C
ENST00000379802.8:c.800A>C MANE Select	ENSP00000369129.3:p.Asp267Ala
ENST00000379802.7:c.800A>C	ENSP00000369129.3:p.Asp267Ala
ENST00000418664.2:c.800A>C	ENSP00000396591.2:p.Asp267Ala
ENST00000506617.1:n.318A>C
NM_001008844.1:c.800A>C	NP_001008844.1:p.Asp267Ala
NM_004415.2:c.800A>C , LRG_423t1:c.800A>C	NP_004406.2:p.Asp267Ala
XM_011514323.1:c.800A>C	XP_011512625.1:p.Asp267Ala
NM_001008844.2:c.800A>C	NP_001008844.1:p.Asp267Ala
NM_001319034.1:c.800A>C	NP_001305963.1:p.Asp267Ala
NM_004415.3:c.800A>C	NP_004406.2:p.Asp267Ala
NM_004415.4:c.800A>C MANE Select	NP_004406.2:p.Asp267Ala
NM_001008844.3:c.800A>C	NP_001008844.1:p.Asp267Ala
NM_001319034.2:c.800A>C	NP_001305963.1:p.Asp267Ala