Canonical Allele Identifier: CA241419609

Gene: HAL

Linked Data

• dbSNP Id: rs906044159
• MyVariant Identifiers: chr12:g.96384496G>A (hg19) ; chr12:g.95990718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990718G>A , CM000674.2:g.95990718G>A	GRCh38
NC_000012.11:g.96384496G>A , CM000674.1:g.96384496G>A	GRCh37
NC_000012.10:g.94908627G>A	NCBI36
NG_008180.1:g.10576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-186C>T MANE Select	ENSP00000261208.3:n.716-186C>T
ENST00000261208.7:c.716-186C>T	ENSP00000261208.3:n.716-186C>T
ENST00000538703.5:c.716-186C>T	ENSP00000440861.1:n.716-186C>T
ENST00000541929.5:c.92-186C>T	ENSP00000446364.1:n.92-186C>T
ENST00000544080.6:c.*145-186C>T	ENSP00000439385.2:n.*145-186C>T
ENST00000546579.1:c.446-186C>T	ENSP00000447543.1:n.446-186C>T
ENST00000546999.5:c.*145-186C>T	ENSP00000447675.1:n.*145-186C>T
ENST00000549376.1:n.109-186C>T
ENST00000552509.5:c.680-186C>T	ENSP00000450372.1:n.680-186C>T
NM_001258333.1:c.92-186C>T	NP_001245262.1:n.92-186C>T
NM_001258334.1:c.716-186C>T	NP_001245263.1:n.716-186C>T
NM_002108.3:c.716-186C>T	NP_002099.1:n.716-186C>T
XM_011538249.1:c.3+1962C>T	XP_011536551.1:n.3+1962C>T
XM_011538249.2:c.3+1962C>T	XP_011536551.1:n.3+1962C>T
NM_002108.4:c.716-186C>T MANE Select	NP_002099.1:n.716-186C>T
NM_001258334.2:c.716-186C>T	NP_001245263.1:n.716-186C>T
NM_001258333.2:c.92-186C>T	NP_001245262.1:n.92-186C>T