Canonical Allele Identifier: CA386089764

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384239G>T (hg19) ; chr12:g.95990461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990461G>T , CM000674.2:g.95990461G>T	GRCh38
NC_000012.11:g.96384239G>T , CM000674.1:g.96384239G>T	GRCh37
NC_000012.10:g.94908370G>T	NCBI36
NG_008180.1:g.10833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.787C>A MANE Select	ENSP00000261208.3:p.Leu263Ile
ENST00000261208.7:c.787C>A	ENSP00000261208.3:p.Leu263Ile
ENST00000538703.5:c.787C>A	ENSP00000440861.1:p.Leu263Ile
ENST00000541929.5:c.163C>A	ENSP00000446364.1:p.Leu55Ile
ENST00000544080.6:c.*216C>A	ENSP00000439385.2:n.*216C>A
ENST00000546999.5:c.*216C>A	ENSP00000447675.1:n.*216C>A
ENST00000549376.1:n.180C>A
ENST00000551562.1:n.47C>A
ENST00000552509.5:c.751C>A	ENSP00000450372.1:p.Leu251Ile
NM_001258333.1:c.163C>A	NP_001245262.1:p.Leu55Ile
NM_001258334.1:c.787C>A	NP_001245263.1:p.Leu263Ile
NM_002108.3:c.787C>A	NP_002099.1:p.Leu263Ile
XM_011538249.1:c.3+2219C>A	XP_011536551.1:n.3+2219C>A
XM_011538249.2:c.3+2219C>A	XP_011536551.1:n.3+2219C>A
NM_002108.4:c.787C>A MANE Select	NP_002099.1:p.Leu263Ile
NM_001258334.2:c.787C>A	NP_001245263.1:p.Leu263Ile
NM_001258333.2:c.163C>A	NP_001245262.1:p.Leu55Ile