Canonical Allele Identifier: CA2056500182
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95980893A= , CM000674.2:g.95980893A= GRCh38
NC_000012.11:g.96374671A= , CM000674.1:g.96374671A= GRCh37
NC_000012.10:g.94898802A= NCBI36
NG_008180.1:g.20401T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.1288-30T= MANE Select ENSP00000261208.3:n.1288-30T=
ENST00000261208.7:c.1288-30T= ENSP00000261208.3:n.1288-30T=
ENST00000538703.5:c.1288-30T= ENSP00000440861.1:n.1288-30T=
ENST00000541929.5:c.664-30T= ENSP00000446364.1:n.664-30T=
ENST00000544080.6:c.*717-30T= ENSP00000439385.2:n.*717-30T=
ENST00000546999.5:c.*717-30T= ENSP00000447675.1:n.*717-30T=
NM_001258333.1:c.664-30T= NP_001245262.1:n.664-30T=
NM_001258334.1:c.1288-30T= NP_001245263.1:n.1288-30T=
NM_002108.3:c.1288-30T= NP_002099.1:n.1288-30T=
XM_011538249.1:c.436-30T= XP_011536551.1:n.436-30T=
XM_011538249.2:c.436-30T= XP_011536551.1:n.436-30T=
XM_017019246.1:c.358-30T= XP_016874735.1:n.358-30T=
NM_002108.4:c.1288-30T= MANE Select NP_002099.1:n.1288-30T=
NM_001258334.2:c.1288-30T= NP_001245263.1:n.1288-30T=
NM_001258333.2:c.664-30T= NP_001245262.1:n.664-30T=