Canonical Allele Identifier: CA288082066
Gene: COX10 HGNC NCBI

Linked Data

dbSNP Id: rs547070219
gnomAD v2: 17-14111827-A-G
gnomAD v3: 17-14208510-A-G
gnomAD v4: 17-14208510-A-G
MyVariant Identifiers: chr17:g.14111827A>G (hg19) chr17:g.14208510A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208510A>G , CM000679.2:g.14208510A>G GRCh38
NC_000017.10:g.14111827A>G , CM000679.1:g.14111827A>G GRCh37
NC_000017.9:g.14052552A>G NCBI36
NG_008034.1:g.144109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1297A>G MANE Select ENSP00000261643.3:n.*1297A>G
ENST00000664217.1:c.*56-44A>G ENSP00000499396.1:n.*56-44A>G
ENST00000670279.1:c.929-999A>G ENSP00000499450.1:n.929-999A>G
ENST00000261643.7:c.*1297A>G ENSP00000261643.3:n.*1297A>G
NM_001303.3:c.*1297A>G NP_001294.2:n.*1297A>G
XM_011523658.1:c.*1297A>G XP_011521960.1:n.*1297A>G
XR_933974.1:n.1032-999A>G
NM_001303.4:c.*1297A>G MANE Select NP_001294.2:n.*1297A>G
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