Canonical Allele Identifier: CA2056500198

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980905C= , CM000674.2:g.95980905C=	GRCh38
NC_000012.11:g.96374683C= , CM000674.1:g.96374683C=	GRCh37
NC_000012.10:g.94898814C=	NCBI36
NG_008180.1:g.20389G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1288-42G= MANE Select	ENSP00000261208.3:n.1288-42G=
ENST00000261208.7:c.1288-42G=	ENSP00000261208.3:n.1288-42G=
ENST00000538703.5:c.1288-42G=	ENSP00000440861.1:n.1288-42G=
ENST00000541929.5:c.664-42G=	ENSP00000446364.1:n.664-42G=
ENST00000544080.6:c.*717-42G=	ENSP00000439385.2:n.*717-42G=
ENST00000546999.5:c.*717-42G=	ENSP00000447675.1:n.*717-42G=
NM_001258333.1:c.664-42G=	NP_001245262.1:n.664-42G=
NM_001258334.1:c.1288-42G=	NP_001245263.1:n.1288-42G=
NM_002108.3:c.1288-42G=	NP_002099.1:n.1288-42G=
XM_011538249.1:c.436-42G=	XP_011536551.1:n.436-42G=
XM_011538249.2:c.436-42G=	XP_011536551.1:n.436-42G=
XM_017019246.1:c.358-42G=	XP_016874735.1:n.358-42G=
NM_002108.4:c.1288-42G= MANE Select	NP_002099.1:n.1288-42G=
NM_001258334.2:c.1288-42G=	NP_001245263.1:n.1288-42G=
NM_001258333.2:c.664-42G=	NP_001245262.1:n.664-42G=