Canonical Allele Identifier: CA288082239
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs559497399
gnomAD v2: 17-14112037-G-A
gnomAD v3: 17-14208720-G-A
gnomAD v4: 17-14208720-G-A
MyVariant Identifiers: chr17:g.14112037G>A (hg19) chr17:g.14208720G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208720G>A , CM000679.2:g.14208720G>A GRCh38
NC_000017.10:g.14112037G>A , CM000679.1:g.14112037G>A GRCh37
NC_000017.9:g.14052762G>A NCBI36
NG_008034.1:g.144319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*222G>A ENSP00000499396.1:n.*222G>A
ENST00000670279.1:c.929-789G>A ENSP00000499450.1:n.929-789G>A
XR_933974.1:n.1032-789G>A
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