Canonical Allele Identifier: CA2056507254
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990322C= , CM000674.2:g.95990322C= GRCh38
NC_000012.11:g.96384100C= , CM000674.1:g.96384100C= GRCh37
NC_000012.10:g.94908231C= NCBI36
NG_008180.1:g.10972G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.855+71G= MANE Select ENSP00000261208.3:n.855+71G=
ENST00000261208.7:c.855+71G= ENSP00000261208.3:n.855+71G=
ENST00000538703.5:c.855+71G= ENSP00000440861.1:n.855+71G=
ENST00000541929.5:c.231+71G= ENSP00000446364.1:n.231+71G=
ENST00000544080.6:c.*284+71G= ENSP00000439385.2:n.*284+71G=
ENST00000546999.5:c.*284+71G= ENSP00000447675.1:n.*284+71G=
ENST00000549376.1:n.319G=
ENST00000551562.1:n.115+71G=
ENST00000552509.5:c.819+71G= ENSP00000450372.1:n.819+71G=
NM_001258333.1:c.231+71G= NP_001245262.1:n.231+71G=
NM_001258334.1:c.855+71G= NP_001245263.1:n.855+71G=
NM_002108.3:c.855+71G= NP_002099.1:n.855+71G=
XM_011538249.1:c.4-2082G= XP_011536551.1:n.4-2082G=
XM_011538249.2:c.4-2082G= XP_011536551.1:n.4-2082G=
XM_017019246.1:c.-556G= XP_016874735.1:n.-556G=
NM_002108.4:c.855+71G= MANE Select NP_002099.1:n.855+71G=
NM_001258334.2:c.855+71G= NP_001245263.1:n.855+71G=
NM_001258333.2:c.231+71G= NP_001245262.1:n.231+71G=