Canonical Allele Identifier: CA8776892

Gene: ACOX1

Linked Data

• dbSNP Id: rs767481940
• ExAC: 17:73949552 G / C
• gnomAD v2: 17-73949552-G-C
• gnomAD v4: 17-75953471-G-C
• MyVariant Identifiers: chr17:g.73949552G>C (hg19) ; chr17:g.75953471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953471G>C , CM000679.2:g.75953471G>C	GRCh38
NC_000017.10:g.73949552G>C , CM000679.1:g.73949552G>C	GRCh37
NC_000017.9:g.71461147G>C	NCBI36
NG_008190.1:g.30893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.924C>G	ENSP00000301608.4:p.His308Gln
ENST00000293217.10:c.924C>G MANE Select	ENSP00000293217.4:p.His308Gln
ENST00000293217.9:c.924C>G	ENSP00000293217.4:p.His308Gln
ENST00000301608.8:c.924C>G	ENSP00000301608.4:p.His308Gln
ENST00000572047.5:c.1098C>G	ENSP00000459936.1:n.1098C>G
ENST00000573078.5:c.*413C>G	ENSP00000458325.1:n.*413C>G
ENST00000589744.1:n.174C>G
NM_001185039.1:c.810C>G	NP_001171968.1:p.His270Gln
NM_004035.6:c.924C>G	NP_004026.2:p.His308Gln
NM_007292.5:c.924C>G	NP_009223.2:p.His308Gln
XM_011524868.1:c.720C>G	XP_011523170.1:p.His240Gln
XM_011524869.1:c.516C>G	XP_011523171.1:p.His172Gln
XM_011524868.3:c.720C>G	XP_011523170.1:p.His240Gln
XM_011524869.3:c.516C>G	XP_011523171.1:p.His172Gln
NM_004035.7:c.924C>G MANE Select	NP_004026.2:p.His308Gln
NM_001185039.2:c.810C>G	NP_001171968.1:p.His270Gln
NM_007292.6:c.924C>G	NP_009223.2:p.His308Gln