Canonical Allele Identifier: CA2056507617
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990636A= , CM000674.2:g.95990636A= GRCh38
NC_000012.11:g.96384414A= , CM000674.1:g.96384414A= GRCh37
NC_000012.10:g.94908545A= NCBI36
NG_008180.1:g.10658T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.716-104T= MANE Select ENSP00000261208.3:n.716-104T=
ENST00000261208.7:c.716-104T= ENSP00000261208.3:n.716-104T=
ENST00000538703.5:c.716-104T= ENSP00000440861.1:n.716-104T=
ENST00000541929.5:c.92-104T= ENSP00000446364.1:n.92-104T=
ENST00000544080.6:c.*145-104T= ENSP00000439385.2:n.*145-104T=
ENST00000546579.1:c.446-104T= ENSP00000447543.1:n.446-104T=
ENST00000546999.5:c.*145-104T= ENSP00000447675.1:n.*145-104T=
ENST00000549376.1:n.109-104T=
ENST00000552509.5:c.680-104T= ENSP00000450372.1:n.680-104T=
NM_001258333.1:c.92-104T= NP_001245262.1:n.92-104T=
NM_001258334.1:c.716-104T= NP_001245263.1:n.716-104T=
NM_002108.3:c.716-104T= NP_002099.1:n.716-104T=
XM_011538249.1:c.3+2044T= XP_011536551.1:n.3+2044T=
XM_011538249.2:c.3+2044T= XP_011536551.1:n.3+2044T=
NM_002108.4:c.716-104T= MANE Select NP_002099.1:n.716-104T=
NM_001258334.2:c.716-104T= NP_001245263.1:n.716-104T=
NM_001258333.2:c.92-104T= NP_001245262.1:n.92-104T=