Canonical Allele Identifier: CA288736759

Gene: COX10

Linked Data

• dbSNP Id: rs901162935
• gnomAD v3: 17-14076929-C-T
• gnomAD v4: 17-14076929-C-T
• MyVariant Identifiers: chr17:g.13980246C>T (hg19) ; chr17:g.14076929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076929C>T , CM000679.2:g.14076929C>T	GRCh38
NC_000017.10:g.13980246C>T , CM000679.1:g.13980246C>T	GRCh37
NC_000017.9:g.13920971C>T	NCBI36
NG_008034.1:g.12528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.372C>T MANE Select	ENSP00000261643.3:p.Asp124=
ENST00000664217.1:c.372C>T	ENSP00000499396.1:p.Asp124=
ENST00000670279.1:c.372C>T	ENSP00000499450.1:p.Asp124=
ENST00000261643.7:c.372C>T	ENSP00000261643.3:p.Asp124=
ENST00000429152.6:c.372C>T	ENSP00000397750.2:p.Asp124=
ENST00000580561.1:c.177+2473C>T	ENSP00000462190.1:n.177+2473C>T
ENST00000581931.5:c.372C>T	ENSP00000462512.1:p.Asp124=
NM_001303.3:c.372C>T	NP_001294.2:p.Asp124=
XM_005256458.1:c.372C>T	XP_005256515.1:p.Asp124=
XM_011523657.1:c.372C>T	XP_011521959.1:p.Asp124=
XM_011523658.1:c.-80C>T	XP_011521960.1:n.-80C>T
XR_933974.1:n.475C>T
XR_933975.1:n.475C>T
NM_001303.4:c.372C>T MANE Select	NP_001294.2:p.Asp124=