Canonical Allele Identifier: CA481434911

Gene: HAL

Linked Data

• dbSNP Id: rs1949955985
• MyVariant Identifiers: chr12:g.96384300C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990522C>T , CM000674.2:g.95990522C>T	GRCh38
NC_000012.11:g.96384300C>T , CM000674.1:g.96384300C>T	GRCh37
NC_000012.10:g.94908431C>T	NCBI36
NG_008180.1:g.10772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.726G>A MANE Select	ENSP00000261208.3:p.Leu242=
ENST00000261208.7:c.726G>A	ENSP00000261208.3:p.Leu242=
ENST00000538703.5:c.726G>A	ENSP00000440861.1:p.Leu242=
ENST00000541929.5:c.102G>A	ENSP00000446364.1:p.Leu34=
ENST00000544080.6:c.*155G>A	ENSP00000439385.2:n.*155G>A
ENST00000546579.1:c.456G>A	ENSP00000447543.1:p.Leu152=
ENST00000546999.5:c.*155G>A	ENSP00000447675.1:n.*155G>A
ENST00000549376.1:n.119G>A
ENST00000552509.5:c.690G>A	ENSP00000450372.1:p.Leu230=
NM_001258333.1:c.102G>A	NP_001245262.1:p.Leu34=
NM_001258334.1:c.726G>A	NP_001245263.1:p.Leu242=
NM_002108.3:c.726G>A	NP_002099.1:p.Leu242=
XM_011538249.1:c.3+2158G>A	XP_011536551.1:n.3+2158G>A
XM_011538249.2:c.3+2158G>A	XP_011536551.1:n.3+2158G>A
NM_002108.4:c.726G>A MANE Select	NP_002099.1:p.Leu242=
NM_001258334.2:c.726G>A	NP_001245263.1:p.Leu242=
NM_001258333.2:c.102G>A	NP_001245262.1:p.Leu34=