Canonical Allele Identifier: CA10649484
Gene: SCO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 321784
ClinVar RCV Id: RCV000328062 RCV000381292
dbSNP Id: rs151279533
gnomAD v2: 17-10584087-G-C
gnomAD v3: 17-10680770-G-C
gnomAD v4: 17-10680770-G-C
MyVariant Identifiers: chr17:g.10584087G>C (hg19) chr17:g.10680770G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10680770G>C , CM000679.2:g.10680770G>C GRCh38
NC_000017.10:g.10584087G>C , CM000679.1:g.10584087G>C GRCh37
NC_000017.9:g.10524812G>C NCBI36
NG_008228.2:g.21799C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255390.10:c.*349C>G MANE Select ENSP00000255390.5:n.*349C>G
ENST00000577335.2:c.*1077C>G ENSP00000464032.1:n.*1077C>G
ENST00000255390.9:c.*349C>G ENSP00000255390.5:n.*349C>G
ENST00000577427.1:c.*349C>G ENSP00000463387.1:n.*349C>G
NM_004589.3:c.*349C>G NP_004580.1:n.*349C>G
XM_005256751.2:c.*349C>G XP_005256808.1:n.*349C>G
XM_005256751.4:c.*349C>G XP_005256808.1:n.*349C>G
NM_004589.4:c.*349C>G MANE Select NP_004580.1:n.*349C>G
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