Canonical Allele Identifier: CA2056507426

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990471T= , CM000674.2:g.95990471T=	GRCh38
NC_000012.11:g.96384249T= , CM000674.1:g.96384249T=	GRCh37
NC_000012.10:g.94908380T=	NCBI36
NG_008180.1:g.10823A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.777A= MANE Select	ENSP00000261208.3:p.Pro259=
ENST00000261208.7:c.777A=	ENSP00000261208.3:p.Pro259=
ENST00000538703.5:c.777A=	ENSP00000440861.1:p.Pro259=
ENST00000541929.5:c.153A=	ENSP00000446364.1:p.Pro51=
ENST00000544080.6:c.*206A=	ENSP00000439385.2:n.*206A=
ENST00000546999.5:c.*206A=	ENSP00000447675.1:n.*206A=
ENST00000549376.1:n.170A=
ENST00000551562.1:n.37A=
ENST00000552509.5:c.741A=	ENSP00000450372.1:p.Pro247=
NM_001258333.1:c.153A=	NP_001245262.1:p.Pro51=
NM_001258334.1:c.777A=	NP_001245263.1:p.Pro259=
NM_002108.3:c.777A=	NP_002099.1:p.Pro259=
XM_011538249.1:c.3+2209A=	XP_011536551.1:n.3+2209A=
XM_011538249.2:c.3+2209A=	XP_011536551.1:n.3+2209A=
NM_002108.4:c.777A= MANE Select	NP_002099.1:p.Pro259=
NM_001258334.2:c.777A=	NP_001245263.1:p.Pro259=
NM_001258333.2:c.153A=	NP_001245262.1:p.Pro51=