Canonical Allele Identifier: CA3083976999

Gene: DEGS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224190060A= , CM000663.2:g.224190060A=	GRCh38
NC_000001.10:g.224377762A= , CM000663.1:g.224377762A=	GRCh37
NC_000001.9:g.222444385A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003676.4:c.566A= MANE Select	NP_003667.1:p.Asn189=
ENST00000323699.9:c.566A= MANE Select	ENSP00000316476.4:p.Asn189=
NM_001321541.1:c.566A=	NP_001308470.1:p.Asn189=
NM_001321541.2:c.566A=	NP_001308470.1:p.Asn189=
NM_001321542.1:c.458A=	NP_001308471.1:p.Asn153=
NM_001321542.2:c.458A=	NP_001308471.1:p.Asn153=
NM_003676.3:c.566A=	NP_003667.1:p.Asn189=
ENST00000323699.8:c.566A=	ENSP00000316476.4:p.Asn189=
ENST00000391877.3:c.566A=	ENSP00000375749.3:p.Asn189=
ENST00000415210.5:c.503A=	ENSP00000400545.1:p.Asn168=
XM_011544317.1:c.566A=	XP_011542619.1:p.Asn189=
XM_011544318.1:c.458A=	XP_011542620.1:p.Asn153=
XM_017002648.2:c.458A=	XP_016858137.1:p.Asn153=