Canonical Allele Identifier: CA2056507371

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990409C= , CM000674.2:g.95990409C=	GRCh38
NC_000012.11:g.96384187C= , CM000674.1:g.96384187C=	GRCh37
NC_000012.10:g.94908318C=	NCBI36
NG_008180.1:g.10885G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.839G= MANE Select	ENSP00000261208.3:p.Trp280=
ENST00000261208.7:c.839G=	ENSP00000261208.3:p.Trp280=
ENST00000538703.5:c.839G=	ENSP00000440861.1:p.Trp280=
ENST00000541929.5:c.215G=	ENSP00000446364.1:p.Trp72=
ENST00000544080.6:c.*268G=	ENSP00000439385.2:n.*268G=
ENST00000546999.5:c.*268G=	ENSP00000447675.1:n.*268G=
ENST00000549376.1:n.232G=
ENST00000551562.1:n.99G=
ENST00000552509.5:c.803G=	ENSP00000450372.1:p.Trp268=
NM_001258333.1:c.215G=	NP_001245262.1:p.Trp72=
NM_001258334.1:c.839G=	NP_001245263.1:p.Trp280=
NM_002108.3:c.839G=	NP_002099.1:p.Trp280=
XM_011538249.1:c.4-2169G=	XP_011536551.1:n.4-2169G=
XM_011538249.2:c.4-2169G=	XP_011536551.1:n.4-2169G=
NM_002108.4:c.839G= MANE Select	NP_002099.1:p.Trp280=
NM_001258334.2:c.839G=	NP_001245263.1:p.Trp280=
NM_001258333.2:c.215G=	NP_001245262.1:p.Trp72=