Canonical Allele Identifier: CA8402306

Gene: COX10

Linked Data

• dbSNP Id: rs781218450
• ExAC: 17:13980270 T / G
• gnomAD v2: 17-13980270-T-G
• gnomAD v3: 17-14076953-T-G
• gnomAD v4: 17-14076953-T-G
• MyVariant Identifiers: chr17:g.13980270T>G (hg19) ; chr17:g.14076953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076953T>G , CM000679.2:g.14076953T>G	GRCh38
NC_000017.10:g.13980270T>G , CM000679.1:g.13980270T>G	GRCh37
NC_000017.9:g.13920995T>G	NCBI36
NG_008034.1:g.12552T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.396T>G MANE Select	ENSP00000261643.3:p.Asp132Glu
ENST00000664217.1:c.396T>G	ENSP00000499396.1:p.Asp132Glu
ENST00000670279.1:c.396T>G	ENSP00000499450.1:p.Asp132Glu
ENST00000261643.7:c.396T>G	ENSP00000261643.3:p.Asp132Glu
ENST00000429152.6:c.396T>G	ENSP00000397750.2:p.Asp132Glu
ENST00000580561.1:c.177+2497T>G	ENSP00000462190.1:n.177+2497T>G
ENST00000581931.5:c.396T>G	ENSP00000462512.1:p.Asp132Glu
NM_001303.3:c.396T>G	NP_001294.2:p.Asp132Glu
XM_005256458.1:c.396T>G	XP_005256515.1:p.Asp132Glu
XM_011523657.1:c.396T>G	XP_011521959.1:p.Asp132Glu
XM_011523658.1:c.-56T>G	XP_011521960.1:n.-56T>G
XR_933974.1:n.499T>G
XR_933975.1:n.499T>G
NM_001303.4:c.396T>G MANE Select	NP_001294.2:p.Asp132Glu