Canonical Allele Identifier: CA386089713

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384214C>T (hg19) ; chr12:g.95990436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990436C>T , CM000674.2:g.95990436C>T	GRCh38
NC_000012.11:g.96384214C>T , CM000674.1:g.96384214C>T	GRCh37
NC_000012.10:g.94908345C>T	NCBI36
NG_008180.1:g.10858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.812G>A MANE Select	ENSP00000261208.3:p.Gly271Glu
ENST00000261208.7:c.812G>A	ENSP00000261208.3:p.Gly271Glu
ENST00000538703.5:c.812G>A	ENSP00000440861.1:p.Gly271Glu
ENST00000541929.5:c.188G>A	ENSP00000446364.1:p.Gly63Glu
ENST00000544080.6:c.*241G>A	ENSP00000439385.2:n.*241G>A
ENST00000546999.5:c.*241G>A	ENSP00000447675.1:n.*241G>A
ENST00000549376.1:n.205G>A
ENST00000551562.1:n.72G>A
ENST00000552509.5:c.776G>A	ENSP00000450372.1:p.Gly259Glu
NM_001258333.1:c.188G>A	NP_001245262.1:p.Gly63Glu
NM_001258334.1:c.812G>A	NP_001245263.1:p.Gly271Glu
NM_002108.3:c.812G>A	NP_002099.1:p.Gly271Glu
XM_011538249.1:c.4-2196G>A	XP_011536551.1:n.4-2196G>A
XM_011538249.2:c.4-2196G>A	XP_011536551.1:n.4-2196G>A
NM_002108.4:c.812G>A MANE Select	NP_002099.1:p.Gly271Glu
NM_001258334.2:c.812G>A	NP_001245263.1:p.Gly271Glu
NM_001258333.2:c.188G>A	NP_001245262.1:p.Gly63Glu