Canonical Allele Identifier: CA2056507482

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990512G= , CM000674.2:g.95990512G=	GRCh38
NC_000012.11:g.96384290G= , CM000674.1:g.96384290G=	GRCh37
NC_000012.10:g.94908421G=	NCBI36
NG_008180.1:g.10782C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.736C= MANE Select	ENSP00000261208.3:p.Pro246=
ENST00000261208.7:c.736C=	ENSP00000261208.3:p.Pro246=
ENST00000538703.5:c.736C=	ENSP00000440861.1:p.Pro246=
ENST00000541929.5:c.112C=	ENSP00000446364.1:p.Pro38=
ENST00000544080.6:c.*165C=	ENSP00000439385.2:n.*165C=
ENST00000546579.1:c.466C=	ENSP00000447543.1:p.Pro156=
ENST00000546999.5:c.*165C=	ENSP00000447675.1:n.*165C=
ENST00000549376.1:n.129C=
ENST00000552509.5:c.700C=	ENSP00000450372.1:p.Pro234=
NM_001258333.1:c.112C=	NP_001245262.1:p.Pro38=
NM_001258334.1:c.736C=	NP_001245263.1:p.Pro246=
NM_002108.3:c.736C=	NP_002099.1:p.Pro246=
XM_011538249.1:c.3+2168C=	XP_011536551.1:n.3+2168C=
XM_011538249.2:c.3+2168C=	XP_011536551.1:n.3+2168C=
NM_002108.4:c.736C= MANE Select	NP_002099.1:p.Pro246=
NM_001258334.2:c.736C=	NP_001245263.1:p.Pro246=
NM_001258333.2:c.112C=	NP_001245262.1:p.Pro38=