Canonical Allele Identifier: CA2056507419

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990463T= , CM000674.2:g.95990463T=	GRCh38
NC_000012.11:g.96384241T= , CM000674.1:g.96384241T=	GRCh37
NC_000012.10:g.94908372T=	NCBI36
NG_008180.1:g.10831A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.785A= MANE Select	ENSP00000261208.3:p.His262=
ENST00000261208.7:c.785A=	ENSP00000261208.3:p.His262=
ENST00000538703.5:c.785A=	ENSP00000440861.1:p.His262=
ENST00000541929.5:c.161A=	ENSP00000446364.1:p.His54=
ENST00000544080.6:c.*214A=	ENSP00000439385.2:n.*214A=
ENST00000546999.5:c.*214A=	ENSP00000447675.1:n.*214A=
ENST00000549376.1:n.178A=
ENST00000551562.1:n.45A=
ENST00000552509.5:c.749A=	ENSP00000450372.1:p.His250=
NM_001258333.1:c.161A=	NP_001245262.1:p.His54=
NM_001258334.1:c.785A=	NP_001245263.1:p.His262=
NM_002108.3:c.785A=	NP_002099.1:p.His262=
XM_011538249.1:c.3+2217A=	XP_011536551.1:n.3+2217A=
XM_011538249.2:c.3+2217A=	XP_011536551.1:n.3+2217A=
NM_002108.4:c.785A= MANE Select	NP_002099.1:p.His262=
NM_001258334.2:c.785A=	NP_001245263.1:p.His262=
NM_001258333.2:c.161A=	NP_001245262.1:p.His54=