Canonical Allele Identifier: CA10648568
Gene: SCO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 321786
ClinVar RCV Id: RCV000286496 RCV000401460 RCV001643003
dbSNP Id: rs2662957
gnomAD v2: 17-10584126-G-A
gnomAD v3: 17-10680809-G-A
gnomAD v4: 17-10680809-G-A
MyVariant Identifiers: chr17:g.10584126G>A (hg19) chr17:g.10680809G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10680809G>A , CM000679.2:g.10680809G>A GRCh38
NC_000017.10:g.10584126G>A , CM000679.1:g.10584126G>A GRCh37
NC_000017.9:g.10524851G>A NCBI36
NG_008228.2:g.21760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255390.10:c.*310C>T MANE Select ENSP00000255390.5:n.*310C>T
ENST00000577335.2:c.*1038C>T ENSP00000464032.1:n.*1038C>T
ENST00000255390.9:c.*310C>T ENSP00000255390.5:n.*310C>T
ENST00000577427.1:c.*310C>T ENSP00000463387.1:n.*310C>T
NM_004589.3:c.*310C>T NP_004580.1:n.*310C>T
XM_005256751.2:c.*310C>T XP_005256808.1:n.*310C>T
XM_005256751.4:c.*310C>T XP_005256808.1:n.*310C>T
NM_004589.4:c.*310C>T MANE Select NP_004580.1:n.*310C>T
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Search 100 bp 3'