Canonical Allele Identifier: CA292383789

Gene: HLF

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.55267768G>A , CM000679.2:g.55267768G>A	GRCh38
NC_000017.10:g.53345129G>A , CM000679.1:g.53345129G>A	GRCh37
NC_000017.9:g.50700128G>A	NCBI36
NG_046944.1:g.7809G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002126.5:c.133G>A MANE Select	NP_002117.1:p.Asp45Asn
ENST00000226067.10:c.133G>A MANE Select	ENSP00000226067.5:p.Asp45Asn
NM_001330375.1:c.-123G>A	NP_001317304.1:n.-123G>A
NM_001330375.2:c.-123G>A	NP_001317304.1:n.-123G>A
NM_002126.4:c.133G>A	NP_002117.1:p.Asp45Asn
ENST00000226067.9:c.133G>A	ENSP00000226067.5:p.Asp45Asn
ENST00000430986.6:c.-123G>A	ENSP00000402496.2:n.-123G>A
ENST00000570962.1:c.-123G>A	ENSP00000460265.1:n.-123G>A
ENST00000573945.5:c.-123G>A	ENSP00000460296.1:n.-123G>A
ENST00000575345.5:c.-123G>A	ENSP00000460572.1:n.-123G>A
XM_005257269.1:c.133G>A	XP_005257326.1:p.Asp45Asn
XM_005257269.3:c.133G>A	XP_005257326.1:p.Asp45Asn
XM_011524705.1:c.-123G>A	XP_011523007.1:n.-123G>A
XR_002957996.1:n.658G>A