Canonical Allele Identifier: CA498341244

Gene: COX10

Linked Data

• MyVariant Identifiers: chr17:g.14005556T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14102239T>C , CM000679.2:g.14102239T>C	GRCh38
NC_000017.10:g.14005556T>C , CM000679.1:g.14005556T>C	GRCh37
NC_000017.9:g.13946281T>C	NCBI36
NG_008034.1:g.37838T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261643.8:c.621T>C MANE Select	ENSP00000261643.3:p.Asn207=
ENST00000664217.1:c.621T>C	ENSP00000499396.1:p.Asn207=
ENST00000670279.1:c.621T>C	ENSP00000499450.1:p.Asn207=
ENST00000261643.7:c.621T>C	ENSP00000261643.3:p.Asn207=
ENST00000580561.1:c.*110T>C	ENSP00000462190.1:n.*110T>C
ENST00000581931.5:c.499+25183T>C	ENSP00000462512.1:n.499+25183T>C
NM_001303.3:c.621T>C	NP_001294.2:p.Asn207=
XM_005256458.1:c.621T>C	XP_005256515.1:p.Asn207=
XM_011523657.1:c.621T>C	XP_011521959.1:p.Asn207=
XM_011523658.1:c.48+25183T>C	XP_011521960.1:n.48+25183T>C
XR_933974.1:n.724T>C
XR_933975.1:n.724T>C
NM_001303.4:c.621T>C MANE Select	NP_001294.2:p.Asn207=