Canonical Allele Identifier: CA2056507120
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990101C= , CM000674.2:g.95990101C= GRCh38
NC_000012.11:g.96383879C= , CM000674.1:g.96383879C= GRCh37
NC_000012.10:g.94908010C= NCBI36
NG_008180.1:g.11193G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.855+292G= MANE Select ENSP00000261208.3:n.855+292G=
ENST00000261208.7:c.855+292G= ENSP00000261208.3:n.855+292G=
ENST00000538703.5:c.855+292G= ENSP00000440861.1:n.855+292G=
ENST00000541929.5:c.231+292G= ENSP00000446364.1:n.231+292G=
ENST00000544080.6:c.*284+292G= ENSP00000439385.2:n.*284+292G=
ENST00000546999.5:c.*284+292G= ENSP00000447675.1:n.*284+292G=
ENST00000551562.1:n.116-204G=
ENST00000552509.5:c.819+292G= ENSP00000450372.1:n.819+292G=
NM_001258333.1:c.231+292G= NP_001245262.1:n.231+292G=
NM_001258334.1:c.855+292G= NP_001245263.1:n.855+292G=
NM_002108.3:c.855+292G= NP_002099.1:n.855+292G=
XM_011538249.1:c.4-1861G= XP_011536551.1:n.4-1861G=
XM_011538249.2:c.4-1861G= XP_011536551.1:n.4-1861G=
XM_017019246.1:c.-335G= XP_016874735.1:n.-335G=
NM_002108.4:c.855+292G= MANE Select NP_002099.1:n.855+292G=
NM_001258334.2:c.855+292G= NP_001245263.1:n.855+292G=
NM_001258333.2:c.231+292G= NP_001245262.1:n.231+292G=