Canonical Allele Identifier: CA2056500136

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980855A= , CM000674.2:g.95980855A=	GRCh38
NC_000012.11:g.96374633A= , CM000674.1:g.96374633A=	GRCh37
NC_000012.10:g.94898764A=	NCBI36
NG_008180.1:g.20439T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1296T= MANE Select	ENSP00000261208.3:p.Phe432=
ENST00000261208.7:c.1296T=	ENSP00000261208.3:p.Phe432=
ENST00000538703.5:c.1296T=	ENSP00000440861.1:p.Phe432=
ENST00000541929.5:c.672T=	ENSP00000446364.1:p.Phe224=
ENST00000544080.6:c.*725T=	ENSP00000439385.2:n.*725T=
ENST00000546999.5:c.*725T=	ENSP00000447675.1:n.*725T=
NM_001258333.1:c.672T=	NP_001245262.1:p.Phe224=
NM_001258334.1:c.1296T=	NP_001245263.1:p.Phe432=
NM_002108.3:c.1296T=	NP_002099.1:p.Phe432=
XM_011538249.1:c.444T=	XP_011536551.1:p.Phe148=
XM_011538249.2:c.444T=	XP_011536551.1:p.Phe148=
XM_017019246.1:c.366T=	XP_016874735.1:p.Phe122=
NM_002108.4:c.1296T= MANE Select	NP_002099.1:p.Phe432=
NM_001258334.2:c.1296T=	NP_001245263.1:p.Phe432=
NM_001258333.2:c.672T=	NP_001245262.1:p.Phe224=