Canonical Allele Identifier: CA14461188
Gene: COX10 HGNC NCBI
COX10-DT HGNC NCBI

Linked Data

dbSNP Id: rs543130233
gnomAD v2: 17-13972754-C-T
gnomAD v3: 17-14069437-C-T
gnomAD v4: 17-14069437-C-T
MyVariant Identifiers: chr17:g.13972754C>T (hg19) chr17:g.14069437C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14069437C>T , CM000679.2:g.14069437C>T GRCh38
NC_000017.10:g.13972754C>T , CM000679.1:g.13972754C>T GRCh37
NC_000017.9:g.13913479C>T NCBI36
NG_008034.1:g.5036C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001303.3:c.-169C>T (COX10) NP_001294.2:n.-169C>T
NR_049718.1:n.22G>A (COX10-DT)
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