Canonical Allele Identifier: CA288735961
Gene: COX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 889563
ClinVar RCV Id: RCV002482235
dbSNP Id: rs188803165
gnomAD v2: 17-13972834-G-T
gnomAD v3: 17-14069517-G-T
gnomAD v4: 17-14069517-G-T
MyVariant Identifiers: chr17:g.13972834G>T (hg19) chr17:g.14069517G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14069517G>T , CM000679.2:g.14069517G>T GRCh38
NC_000017.10:g.13972834G>T , CM000679.1:g.13972834G>T GRCh37
NC_000017.9:g.13913559G>T NCBI36
NG_008034.1:g.5116G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261643.8:c.-89G>T MANE Select ENSP00000261643.3:n.-89G>T
ENST00000664217.1:c.-89G>T ENSP00000499396.1:n.-89G>T
ENST00000670279.1:c.-89G>T ENSP00000499450.1:n.-89G>T
ENST00000429152.6:c.-89G>T ENSP00000397750.2:n.-89G>T
NM_001303.3:c.-89G>T NP_001294.2:n.-89G>T
XM_005256458.1:c.-89G>T XP_005256515.1:n.-89G>T
XM_011523657.1:c.-89G>T XP_011521959.1:n.-89G>T
XM_011523658.1:c.-540G>T XP_011521960.1:n.-540G>T
XR_933974.1:n.15G>T
XR_933975.1:n.15G>T
NM_001303.4:c.-89G>T MANE Select NP_001294.2:n.-89G>T
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