Canonical Allele Identifier: CA115145
Gene: HAL HGNC NCBI

Linked Data

ClinVar Variation Id: 1691
ClinVar RCV Id: RCV000001759
dbSNP Id: rs121434329

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990472G>A , CM000674.2:g.95990472G>A GRCh38
NC_000012.11:g.96384250G>A , CM000674.1:g.96384250G>A GRCh37
NC_000012.10:g.94908381G>A NCBI36
NG_008180.1:g.10822C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.776C>T MANE Select ENSP00000261208.3:p.Pro259Leu
ENST00000261208.7:c.776C>T ENSP00000261208.3:p.Pro259Leu
ENST00000538703.5:c.776C>T ENSP00000440861.1:p.Pro259Leu
ENST00000541929.5:c.152C>T ENSP00000446364.1:p.Pro51Leu
ENST00000544080.6:c.*205C>T ENSP00000439385.2:n.*205C>T
ENST00000546999.5:c.*205C>T ENSP00000447675.1:n.*205C>T
ENST00000549376.1:n.169C>T
ENST00000551562.1:n.36C>T
ENST00000552509.5:c.740C>T ENSP00000450372.1:p.Pro247Leu
NM_001258333.1:c.152C>T NP_001245262.1:p.Pro51Leu
NM_001258334.1:c.776C>T NP_001245263.1:p.Pro259Leu
NM_002108.3:c.776C>T NP_002099.1:p.Pro259Leu
XM_011538249.1:c.3+2208C>T XP_011536551.1:n.3+2208C>T
XM_011538249.2:c.3+2208C>T XP_011536551.1:n.3+2208C>T
NM_002108.4:c.776C>T MANE Select NP_002099.1:p.Pro259Leu
NM_001258334.2:c.776C>T NP_001245263.1:p.Pro259Leu
NM_001258333.2:c.152C>T NP_001245262.1:p.Pro51Leu