Canonical Allele Identifier: CA2056507312

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990372A= , CM000674.2:g.95990372A=	GRCh38
NC_000012.11:g.96384150A= , CM000674.1:g.96384150A=	GRCh37
NC_000012.10:g.94908281A=	NCBI36
NG_008180.1:g.10922T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+21T= MANE Select	ENSP00000261208.3:n.855+21T=
ENST00000261208.7:c.855+21T=	ENSP00000261208.3:n.855+21T=
ENST00000538703.5:c.855+21T=	ENSP00000440861.1:n.855+21T=
ENST00000541929.5:c.231+21T=	ENSP00000446364.1:n.231+21T=
ENST00000544080.6:c.*284+21T=	ENSP00000439385.2:n.*284+21T=
ENST00000546999.5:c.*284+21T=	ENSP00000447675.1:n.*284+21T=
ENST00000549376.1:n.269T=
ENST00000551562.1:n.115+21T=
ENST00000552509.5:c.819+21T=	ENSP00000450372.1:n.819+21T=
NM_001258333.1:c.231+21T=	NP_001245262.1:n.231+21T=
NM_001258334.1:c.855+21T=	NP_001245263.1:n.855+21T=
NM_002108.3:c.855+21T=	NP_002099.1:n.855+21T=
XM_011538249.1:c.4-2132T=	XP_011536551.1:n.4-2132T=
XM_011538249.2:c.4-2132T=	XP_011536551.1:n.4-2132T=
XM_017019246.1:c.-606T=	XP_016874735.1:n.-606T=
NM_002108.4:c.855+21T= MANE Select	NP_002099.1:n.855+21T=
NM_001258334.2:c.855+21T=	NP_001245263.1:n.855+21T=
NM_001258333.2:c.231+21T=	NP_001245262.1:n.231+21T=