Canonical Allele Identifier: CA2056507247
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990310G= , CM000674.2:g.95990310G= GRCh38
NC_000012.11:g.96384088G= , CM000674.1:g.96384088G= GRCh37
NC_000012.10:g.94908219G= NCBI36
NG_008180.1:g.10984C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.855+83C= MANE Select ENSP00000261208.3:n.855+83C=
ENST00000261208.7:c.855+83C= ENSP00000261208.3:n.855+83C=
ENST00000538703.5:c.855+83C= ENSP00000440861.1:n.855+83C=
ENST00000541929.5:c.231+83C= ENSP00000446364.1:n.231+83C=
ENST00000544080.6:c.*284+83C= ENSP00000439385.2:n.*284+83C=
ENST00000546999.5:c.*284+83C= ENSP00000447675.1:n.*284+83C=
ENST00000549376.1:n.331C=
ENST00000551562.1:n.115+83C=
ENST00000552509.5:c.819+83C= ENSP00000450372.1:n.819+83C=
NM_001258333.1:c.231+83C= NP_001245262.1:n.231+83C=
NM_001258334.1:c.855+83C= NP_001245263.1:n.855+83C=
NM_002108.3:c.855+83C= NP_002099.1:n.855+83C=
XM_011538249.1:c.4-2070C= XP_011536551.1:n.4-2070C=
XM_011538249.2:c.4-2070C= XP_011536551.1:n.4-2070C=
XM_017019246.1:c.-544C= XP_016874735.1:n.-544C=
NM_002108.4:c.855+83C= MANE Select NP_002099.1:n.855+83C=
NM_001258334.2:c.855+83C= NP_001245263.1:n.855+83C=
NM_001258333.2:c.231+83C= NP_001245262.1:n.231+83C=