Canonical Allele Identifier: CA386089907

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384310G>T (hg19) ; chr12:g.95990532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990532G>T , CM000674.2:g.95990532G>T	GRCh38
NC_000012.11:g.96384310G>T , CM000674.1:g.96384310G>T	GRCh37
NC_000012.10:g.94908441G>T	NCBI36
NG_008180.1:g.10762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716C>A MANE Select	ENSP00000261208.3:p.Ala239Asp
ENST00000261208.7:c.716C>A	ENSP00000261208.3:p.Ala239Asp
ENST00000538703.5:c.716C>A	ENSP00000440861.1:p.Ala239Asp
ENST00000541929.5:c.92C>A	ENSP00000446364.1:p.Ala31Asp
ENST00000544080.6:c.*145C>A	ENSP00000439385.2:n.*145C>A
ENST00000546579.1:c.446C>A	ENSP00000447543.1:p.Ala149Asp
ENST00000546999.5:c.*145C>A	ENSP00000447675.1:n.*145C>A
ENST00000549376.1:n.109C>A
ENST00000552509.5:c.680C>A	ENSP00000450372.1:p.Ala227Asp
NM_001258333.1:c.92C>A	NP_001245262.1:p.Ala31Asp
NM_001258334.1:c.716C>A	NP_001245263.1:p.Ala239Asp
NM_002108.3:c.716C>A	NP_002099.1:p.Ala239Asp
XM_011538249.1:c.3+2148C>A	XP_011536551.1:n.3+2148C>A
XM_011538249.2:c.3+2148C>A	XP_011536551.1:n.3+2148C>A
NM_002108.4:c.716C>A MANE Select	NP_002099.1:p.Ala239Asp
NM_001258334.2:c.716C>A	NP_001245263.1:p.Ala239Asp
NM_001258333.2:c.92C>A	NP_001245262.1:p.Ala31Asp