Canonical Allele Identifier: CA376196412

Gene: HACD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.17603585C>T , CM000672.2:g.17603585C>T	GRCh38
NC_000010.10:g.17645584C>T , CM000672.1:g.17645584C>T	GRCh37
NC_000010.9:g.17685590C>T	NCBI36
NG_041789.1:g.18790G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014241.4:c.458G>A MANE Select	NP_055056.3:p.Trp153Ter
ENST00000361271.8:c.458G>A MANE Select	ENSP00000355308.3:p.Trp153Ter
NM_014241.3:c.458G>A	NP_055056.3:p.Trp153Ter
ENST00000361271.7:c.458G>A	ENSP00000355308.3:p.Trp153Ter
ENST00000466335.1:c.354G>A
ENST00000471481.1:n.244G>A
ENST00000498812.5:c.83G>A	ENSP00000462868.1:p.Trp28Ter
ENST00000632169.1:n.755G>A
XM_005252641.3:c.375+345G>A	XP_005252698.1:n.375+345G>A
XM_005252641.4:c.375+345G>A	XP_005252698.1:n.375+345G>A
XR_428651.2:n.509G>A
XR_428651.3:n.493G>A