Canonical Allele Identifier: CA8393741

Gene: SCO1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10697503G>T , CM000679.2:g.10697503G>T	GRCh38
NC_000017.10:g.10600820G>T , CM000679.1:g.10600820G>T	GRCh37
NC_000017.9:g.10541545G>T	NCBI36
NG_008228.2:g.5066C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004589.4:c.5C>A MANE Select	NP_004580.1:p.Ala2Glu
ENST00000255390.10:c.5C>A MANE Select	ENSP00000255390.5:p.Ala2Glu
NM_004589.3:c.5C>A	NP_004580.1:p.Ala2Glu
ENST00000255390.9:c.5C>A	ENSP00000255390.5:p.Ala2Glu
ENST00000577335.1:c.5C>A	ENSP00000464032.1:p.Ala2Glu
ENST00000577335.2:c.5C>A	ENSP00000464032.1:p.Ala2Glu
ENST00000577427.1:c.5C>A	ENSP00000463387.1:p.Ala2Glu
ENST00000579396.1:n.25C>A
ENST00000582053.1:n.436+437C>A
XM_005256751.2:c.-332C>A	XP_005256808.1:n.-332C>A
XM_005256751.4:c.-332C>A	XP_005256808.1:n.-332C>A