Canonical Allele Identifier: CA398248392

Gene: COX10

Linked Data

• dbSNP Id: rs1252709958
• gnomAD v2: 17-13980272-T-C
• gnomAD v4: 17-14076955-T-C
• MyVariant Identifiers: chr17:g.13980272T>C (hg19) ; chr17:g.14076955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.14076955T>C , CM000679.2:g.14076955T>C	GRCh38
NC_000017.10:g.13980272T>C , CM000679.1:g.13980272T>C	GRCh37
NC_000017.9:g.13920997T>C	NCBI36
NG_008034.1:g.12554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261643.8:c.398T>C MANE Select	ENSP00000261643.3:p.Val133Ala
ENST00000664217.1:c.398T>C	ENSP00000499396.1:p.Val133Ala
ENST00000670279.1:c.398T>C	ENSP00000499450.1:p.Val133Ala
ENST00000261643.7:c.398T>C	ENSP00000261643.3:p.Val133Ala
ENST00000429152.6:c.398T>C	ENSP00000397750.2:p.Val133Ala
ENST00000580561.1:c.177+2499T>C	ENSP00000462190.1:n.177+2499T>C
ENST00000581931.5:c.398T>C	ENSP00000462512.1:p.Val133Ala
NM_001303.3:c.398T>C	NP_001294.2:p.Val133Ala
XM_005256458.1:c.398T>C	XP_005256515.1:p.Val133Ala
XM_011523657.1:c.398T>C	XP_011521959.1:p.Val133Ala
XM_011523658.1:c.-54T>C	XP_011521960.1:n.-54T>C
XR_933974.1:n.501T>C
XR_933975.1:n.501T>C
NM_001303.4:c.398T>C MANE Select	NP_001294.2:p.Val133Ala