Canonical Allele Identifier: CA8402372

Gene: COX10

Linked Data

• dbSNP Id: rs755709533
• ExAC: 17:14005555 A / C
• gnomAD v2: 17-14005555-A-C
• gnomAD v4: 17-14102238-A-C
• MyVariant Identifiers: chr17:g.14005555A>C (hg19) ; chr17:g.14102238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102238A>C , CM000679.2:g.14102238A>C	GRCh38
NC_000017.10:g.14005555A>C , CM000679.1:g.14005555A>C	GRCh37
NC_000017.9:g.13946280A>C	NCBI36
NG_008034.1:g.37837A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.620A>C MANE Select	ENSP00000261643.3:p.Asn207Thr
ENST00000664217.1:c.620A>C	ENSP00000499396.1:p.Asn207Thr
ENST00000670279.1:c.620A>C	ENSP00000499450.1:p.Asn207Thr
ENST00000261643.7:c.620A>C	ENSP00000261643.3:p.Asn207Thr
ENST00000580561.1:c.*109A>C	ENSP00000462190.1:n.*109A>C
ENST00000581931.5:c.499+25182A>C	ENSP00000462512.1:n.499+25182A>C
NM_001303.3:c.620A>C	NP_001294.2:p.Asn207Thr
XM_005256458.1:c.620A>C	XP_005256515.1:p.Asn207Thr
XM_011523657.1:c.620A>C	XP_011521959.1:p.Asn207Thr
XM_011523658.1:c.48+25182A>C	XP_011521960.1:n.48+25182A>C
XR_933974.1:n.723A>C
XR_933975.1:n.723A>C
NM_001303.4:c.620A>C MANE Select	NP_001294.2:p.Asn207Thr