Canonical Allele Identifier: CA344708575

Gene: DEGS1

Linked Data

• dbSNP Id: rs1658480627
• MyVariant Identifiers: chr1:g.224377331G>T (hg19) ; chr1:g.224189629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224189629G>T , CM000663.2:g.224189629G>T	GRCh38
NC_000001.10:g.224377331G>T , CM000663.1:g.224377331G>T	GRCh37
NC_000001.9:g.222443954G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323699.9:c.135G>T MANE Select	ENSP00000316476.4:p.Trp45Cys
ENST00000323699.8:c.135G>T	ENSP00000316476.4:p.Trp45Cys
ENST00000391877.3:c.135G>T	ENSP00000375749.3:p.Trp45Cys
ENST00000415210.5:c.72G>T	ENSP00000400545.1:p.Trp24Cys
ENST00000465848.1:n.210G>T
NM_003676.3:c.135G>T	NP_003667.1:p.Trp45Cys
XM_011544317.1:c.135G>T	XP_011542619.1:p.Trp45Cys
XM_011544318.1:c.27G>T	XP_011542620.1:p.Trp9Cys
NM_001321541.1:c.135G>T	NP_001308470.1:p.Trp45Cys
NM_001321542.1:c.27G>T	NP_001308471.1:p.Trp9Cys
XM_017002648.2:c.27G>T	XP_016858137.1:p.Trp9Cys
NM_003676.4:c.135G>T MANE Select	NP_003667.1:p.Trp45Cys
NM_001321541.2:c.135G>T	NP_001308470.1:p.Trp45Cys
NM_001321542.2:c.27G>T	NP_001308471.1:p.Trp9Cys