Canonical Allele Identifier: CA8402423

Gene: COX10

Linked Data

• ClinVar Variation Id: 287432
• ClinVar RCV Id: RCV000305071 ; RCV002487248 ; RCV003165752
• dbSNP Id: rs138560674
• ExAC: 17:14095391 G / T
• gnomAD v2: 17-14095391-G-T
• gnomAD v3: 17-14192074-G-T
• gnomAD v4: 17-14192074-G-T
• MyVariant Identifiers: chr17:g.14095391G>T (hg19) ; chr17:g.14192074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14192074G>T , CM000679.2:g.14192074G>T	GRCh38
NC_000017.10:g.14095391G>T , CM000679.1:g.14095391G>T	GRCh37
NC_000017.9:g.14036116G>T	NCBI36
NG_008034.1:g.127673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.781G>T MANE Select	ENSP00000261643.3:p.Ala261Ser
ENST00000664217.1:c.781G>T	ENSP00000499396.1:p.Ala261Ser
ENST00000670279.1:c.781G>T	ENSP00000499450.1:p.Ala261Ser
ENST00000261643.7:c.781G>T	ENSP00000261643.3:p.Ala261Ser
ENST00000580561.1:c.*270G>T	ENSP00000462190.1:n.*270G>T
ENST00000581931.5:c.*149G>T	ENSP00000462512.1:n.*149G>T
NM_001303.3:c.781G>T	NP_001294.2:p.Ala261Ser
XM_011523657.1:c.696-14736G>T	XP_011521959.1:n.696-14736G>T
XM_011523658.1:c.205G>T	XP_011521960.1:p.Ala69Ser
XR_933974.1:n.884G>T
NM_001303.4:c.781G>T MANE Select	NP_001294.2:p.Ala261Ser