Canonical Allele Identifier: CA2056507351

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990401C= , CM000674.2:g.95990401C=	GRCh38
NC_000012.11:g.96384179C= , CM000674.1:g.96384179C=	GRCh37
NC_000012.10:g.94908310C=	NCBI36
NG_008180.1:g.10893G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.847G= MANE Select	ENSP00000261208.3:p.Ala283=
ENST00000261208.7:c.847G=	ENSP00000261208.3:p.Ala283=
ENST00000538703.5:c.847G=	ENSP00000440861.1:p.Ala283=
ENST00000541929.5:c.223G=	ENSP00000446364.1:p.Ala75=
ENST00000544080.6:c.*276G=	ENSP00000439385.2:n.*276G=
ENST00000546999.5:c.*276G=	ENSP00000447675.1:n.*276G=
ENST00000549376.1:n.240G=
ENST00000551562.1:n.107G=
ENST00000552509.5:c.811G=	ENSP00000450372.1:p.Ala271=
NM_001258333.1:c.223G=	NP_001245262.1:p.Ala75=
NM_001258334.1:c.847G=	NP_001245263.1:p.Ala283=
NM_002108.3:c.847G=	NP_002099.1:p.Ala283=
XM_011538249.1:c.4-2161G=	XP_011536551.1:n.4-2161G=
XM_011538249.2:c.4-2161G=	XP_011536551.1:n.4-2161G=
NM_002108.4:c.847G= MANE Select	NP_002099.1:p.Ala283=
NM_001258334.2:c.847G=	NP_001245263.1:p.Ala283=
NM_001258333.2:c.223G=	NP_001245262.1:p.Ala75=