Canonical Allele Identifier: CA726258808

Gene: COX10

Linked Data

• dbSNP Id: rs1446331612
• gnomAD v3: 17-14208512-T-C
• gnomAD v4: 17-14208512-T-C
• MyVariant Identifiers: chr17:g.14111829T>C (hg19) ; chr17:g.14208512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14208512T>C , CM000679.2:g.14208512T>C	GRCh38
NC_000017.10:g.14111829T>C , CM000679.1:g.14111829T>C	GRCh37
NC_000017.9:g.14052554T>C	NCBI36
NG_008034.1:g.144111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.*1299T>C MANE Select	ENSP00000261643.3:n.*1299T>C
ENST00000664217.1:c.*56-42T>C	ENSP00000499396.1:n.*56-42T>C
ENST00000670279.1:c.929-997T>C	ENSP00000499450.1:n.929-997T>C
ENST00000261643.7:c.*1299T>C	ENSP00000261643.3:n.*1299T>C
NM_001303.3:c.*1299T>C	NP_001294.2:n.*1299T>C
XM_011523658.1:c.*1299T>C	XP_011521960.1:n.*1299T>C
XR_933974.1:n.1032-997T>C
NM_001303.4:c.*1299T>C MANE Select	NP_001294.2:n.*1299T>C