Canonical Allele Identifier: CA2056500065

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980813A= , CM000674.2:g.95980813A=	GRCh38
NC_000012.11:g.96374591A= , CM000674.1:g.96374591A=	GRCh37
NC_000012.10:g.94898722A=	NCBI36
NG_008180.1:g.20481T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1338T= MANE Select	ENSP00000261208.3:p.Gly446=
ENST00000261208.7:c.1338T=	ENSP00000261208.3:p.Gly446=
ENST00000538703.5:c.1338T=	ENSP00000440861.1:p.Gly446=
ENST00000541929.5:c.714T=	ENSP00000446364.1:p.Gly238=
ENST00000544080.6:c.*767T=	ENSP00000439385.2:n.*767T=
ENST00000546999.5:c.*765+2T=	ENSP00000447675.1:n.*765+2T=
NM_001258333.1:c.714T=	NP_001245262.1:p.Gly238=
NM_001258334.1:c.1338T=	NP_001245263.1:p.Gly446=
NM_002108.3:c.1338T=	NP_002099.1:p.Gly446=
XM_011538249.1:c.486T=	XP_011536551.1:p.Gly162=
XM_011538249.2:c.486T=	XP_011536551.1:p.Gly162=
XM_017019246.1:c.408T=	XP_016874735.1:p.Gly136=
NM_002108.4:c.1338T= MANE Select	NP_002099.1:p.Gly446=
NM_001258334.2:c.1338T=	NP_001245263.1:p.Gly446=
NM_001258333.2:c.714T=	NP_001245262.1:p.Gly238=