Canonical Allele Identifier: CA2056500126

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980852G= , CM000674.2:g.95980852G=	GRCh38
NC_000012.11:g.96374630G= , CM000674.1:g.96374630G=	GRCh37
NC_000012.10:g.94898761G=	NCBI36
NG_008180.1:g.20442C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1299C= MANE Select	ENSP00000261208.3:p.Ala433=
ENST00000261208.7:c.1299C=	ENSP00000261208.3:p.Ala433=
ENST00000538703.5:c.1299C=	ENSP00000440861.1:p.Ala433=
ENST00000541929.5:c.675C=	ENSP00000446364.1:p.Ala225=
ENST00000544080.6:c.*728C=	ENSP00000439385.2:n.*728C=
ENST00000546999.5:c.*728C=	ENSP00000447675.1:n.*728C=
NM_001258333.1:c.675C=	NP_001245262.1:p.Ala225=
NM_001258334.1:c.1299C=	NP_001245263.1:p.Ala433=
NM_002108.3:c.1299C=	NP_002099.1:p.Ala433=
XM_011538249.1:c.447C=	XP_011536551.1:p.Ala149=
XM_011538249.2:c.447C=	XP_011536551.1:p.Ala149=
XM_017019246.1:c.369C=	XP_016874735.1:p.Ala123=
NM_002108.4:c.1299C= MANE Select	NP_002099.1:p.Ala433=
NM_001258334.2:c.1299C=	NP_001245263.1:p.Ala433=
NM_001258333.2:c.675C=	NP_001245262.1:p.Ala225=