Canonical Allele Identifier: CA324000

Gene: SCO1

Linked Data

• ClinVar Variation Id: 215125
• ClinVar RCV Id: RCV000199457 ; RCV002478692
• dbSNP Id: rs368098002
• ExAC: 17:10596213 T / C
• gnomAD v2: 17-10596213-T-C
• gnomAD v3: 17-10692896-T-C
• gnomAD v4: 17-10692896-T-C
• MyVariant Identifiers: chr17:g.10596213T>C (hg19) ; chr17:g.10692896T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10692896T>C , CM000679.2:g.10692896T>C	GRCh38
NC_000017.10:g.10596213T>C , CM000679.1:g.10596213T>C	GRCh37
NC_000017.9:g.10536938T>C	NCBI36
NG_008228.2:g.9673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255390.10:c.430A>G MANE Select	ENSP00000255390.5:p.Thr144Ala
ENST00000577335.2:c.*157A>G	ENSP00000464032.1:n.*157A>G
ENST00000255390.9:c.430A>G	ENSP00000255390.5:p.Thr144Ala
ENST00000577335.1:c.*157A>G	ENSP00000464032.1:n.*157A>G
ENST00000577427.1:c.430A>G	ENSP00000463387.1:p.Thr144Ala
NM_004589.3:c.430A>G	NP_004580.1:p.Thr144Ala
XM_005256751.2:c.97A>G	XP_005256808.1:p.Thr33Ala
XM_005256751.4:c.97A>G	XP_005256808.1:p.Thr33Ala
NM_004589.4:c.430A>G MANE Select	NP_004580.1:p.Thr144Ala