Canonical Allele Identifier: CA481434823

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384210C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990432C>T , CM000674.2:g.95990432C>T	GRCh38
NC_000012.11:g.96384210C>T , CM000674.1:g.96384210C>T	GRCh37
NC_000012.10:g.94908341C>T	NCBI36
NG_008180.1:g.10862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.816G>A MANE Select	ENSP00000261208.3:p.Lys272=
ENST00000261208.7:c.816G>A	ENSP00000261208.3:p.Lys272=
ENST00000538703.5:c.816G>A	ENSP00000440861.1:p.Lys272=
ENST00000541929.5:c.192G>A	ENSP00000446364.1:p.Lys64=
ENST00000544080.6:c.*245G>A	ENSP00000439385.2:n.*245G>A
ENST00000546999.5:c.*245G>A	ENSP00000447675.1:n.*245G>A
ENST00000549376.1:n.209G>A
ENST00000551562.1:n.76G>A
ENST00000552509.5:c.780G>A	ENSP00000450372.1:p.Lys260=
NM_001258333.1:c.192G>A	NP_001245262.1:p.Lys64=
NM_001258334.1:c.816G>A	NP_001245263.1:p.Lys272=
NM_002108.3:c.816G>A	NP_002099.1:p.Lys272=
XM_011538249.1:c.4-2192G>A	XP_011536551.1:n.4-2192G>A
XM_011538249.2:c.4-2192G>A	XP_011536551.1:n.4-2192G>A
NM_002108.4:c.816G>A MANE Select	NP_002099.1:p.Lys272=
NM_001258334.2:c.816G>A	NP_001245263.1:p.Lys272=
NM_001258333.2:c.192G>A	NP_001245262.1:p.Lys64=