Canonical Allele Identifier: CA386089638
Gene: HAL HGNC NCBI

Linked Data

dbSNP Id: rs1241154771

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990401C>T , CM000674.2:g.95990401C>T GRCh38
NC_000012.11:g.96384179C>T , CM000674.1:g.96384179C>T GRCh37
NC_000012.10:g.94908310C>T NCBI36
NG_008180.1:g.10893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.847G>A MANE Select ENSP00000261208.3:p.Ala283Thr
ENST00000261208.7:c.847G>A ENSP00000261208.3:p.Ala283Thr
ENST00000538703.5:c.847G>A ENSP00000440861.1:p.Ala283Thr
ENST00000541929.5:c.223G>A ENSP00000446364.1:p.Ala75Thr
ENST00000544080.6:c.*276G>A ENSP00000439385.2:n.*276G>A
ENST00000546999.5:c.*276G>A ENSP00000447675.1:n.*276G>A
ENST00000549376.1:n.240G>A
ENST00000551562.1:n.107G>A
ENST00000552509.5:c.811G>A ENSP00000450372.1:p.Ala271Thr
NM_001258333.1:c.223G>A NP_001245262.1:p.Ala75Thr
NM_001258334.1:c.847G>A NP_001245263.1:p.Ala283Thr
NM_002108.3:c.847G>A NP_002099.1:p.Ala283Thr
XM_011538249.1:c.4-2161G>A XP_011536551.1:n.4-2161G>A
XM_011538249.2:c.4-2161G>A XP_011536551.1:n.4-2161G>A
NM_002108.4:c.847G>A MANE Select NP_002099.1:p.Ala283Thr
NM_001258334.2:c.847G>A NP_001245263.1:p.Ala283Thr
NM_001258333.2:c.223G>A NP_001245262.1:p.Ala75Thr