Canonical Allele Identifier: CA501855982

Gene: ACOX1

Linked Data

• dbSNP Id: rs767481940
• gnomAD v2: 17-73949552-G-A
• gnomAD v3: 17-75953471-G-A
• gnomAD v4: 17-75953471-G-A
• MyVariant Identifiers: chr17:g.73949552G>A (hg19) ; chr17:g.75953471G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.924C>T	ENSP00000301608.4:p.His308=
ENST00000293217.10:c.924C>T MANE Select	ENSP00000293217.4:p.His308=
ENST00000293217.9:c.924C>T	ENSP00000293217.4:p.His308=
ENST00000301608.8:c.924C>T	ENSP00000301608.4:p.His308=
ENST00000572047.5:c.1098C>T	ENSP00000459936.1:n.1098C>T
ENST00000573078.5:c.*413C>T	ENSP00000458325.1:n.*413C>T
ENST00000589744.1:n.174C>T
NM_001185039.1:c.810C>T	NP_001171968.1:p.His270=
NM_004035.6:c.924C>T	NP_004026.2:p.His308=
NM_007292.5:c.924C>T	NP_009223.2:p.His308=
XM_011524868.1:c.720C>T	XP_011523170.1:p.His240=
XM_011524869.1:c.516C>T	XP_011523171.1:p.His172=
XM_011524868.3:c.720C>T	XP_011523170.1:p.His240=
XM_011524869.3:c.516C>T	XP_011523171.1:p.His172=
NM_004035.7:c.924C>T MANE Select	NP_004026.2:p.His308=
NM_001185039.2:c.810C>T	NP_001171968.1:p.His270=
NM_007292.6:c.924C>T	NP_009223.2:p.His308=