Canonical Allele Identifier: CA8393444
Gene: SCO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380438
ClinVar RCV Id: RCV000438369
dbSNP Id: rs114082934
ExAC: 17:10584418 C / T
gnomAD v2: 17-10584418-C-T
gnomAD v3: 17-10681101-C-T
gnomAD v4: 17-10681101-C-T
MyVariant Identifiers: chr17:g.10584418C>T (hg19) chr17:g.10681101C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10681101C>T , CM000679.2:g.10681101C>T GRCh38
NC_000017.10:g.10584418C>T , CM000679.1:g.10584418C>T GRCh37
NC_000017.9:g.10525143C>T NCBI36
NG_008228.2:g.21468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255390.10:c.*18G>A MANE Select ENSP00000255390.5:n.*18G>A
ENST00000577335.2:c.*746G>A ENSP00000464032.1:n.*746G>A
ENST00000255390.9:c.*18G>A ENSP00000255390.5:n.*18G>A
ENST00000577427.1:c.*18G>A ENSP00000463387.1:n.*18G>A
NM_004589.3:c.*18G>A NP_004580.1:n.*18G>A
XM_005256751.2:c.*18G>A XP_005256808.1:n.*18G>A
XM_005256751.4:c.*18G>A XP_005256808.1:n.*18G>A
NM_004589.4:c.*18G>A MANE Select NP_004580.1:n.*18G>A
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