Canonical Allele Identifier: CA2056500050

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980800T= , CM000674.2:g.95980800T=	GRCh38
NC_000012.11:g.96374578T= , CM000674.1:g.96374578T=	GRCh37
NC_000012.10:g.94898709T=	NCBI36
NG_008180.1:g.20494A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1351A= MANE Select	ENSP00000261208.3:p.Lys451=
ENST00000261208.7:c.1351A=	ENSP00000261208.3:p.Lys451=
ENST00000538703.5:c.1351A=	ENSP00000440861.1:p.Lys451=
ENST00000541929.5:c.727A=	ENSP00000446364.1:p.Lys243=
ENST00000544080.6:c.*780A=	ENSP00000439385.2:n.*780A=
ENST00000546999.5:c.*765+15A=	ENSP00000447675.1:n.*765+15A=
NM_001258333.1:c.727A=	NP_001245262.1:p.Lys243=
NM_001258334.1:c.1351A=	NP_001245263.1:p.Lys451=
NM_002108.3:c.1351A=	NP_002099.1:p.Lys451=
XM_011538249.1:c.499A=	XP_011536551.1:p.Lys167=
XM_011538249.2:c.499A=	XP_011536551.1:p.Lys167=
XM_017019246.1:c.421A=	XP_016874735.1:p.Lys141=
NM_002108.4:c.1351A= MANE Select	NP_002099.1:p.Lys451=
NM_001258334.2:c.1351A=	NP_001245263.1:p.Lys451=
NM_001258333.2:c.727A=	NP_001245262.1:p.Lys243=