Canonical Allele Identifier: CA481434907

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384297G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990519G>A , CM000674.2:g.95990519G>A	GRCh38
NC_000012.11:g.96384297G>A , CM000674.1:g.96384297G>A	GRCh37
NC_000012.10:g.94908428G>A	NCBI36
NG_008180.1:g.10775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.729C>T MANE Select	ENSP00000261208.3:p.Pro243=
ENST00000261208.7:c.729C>T	ENSP00000261208.3:p.Pro243=
ENST00000538703.5:c.729C>T	ENSP00000440861.1:p.Pro243=
ENST00000541929.5:c.105C>T	ENSP00000446364.1:p.Pro35=
ENST00000544080.6:c.*158C>T	ENSP00000439385.2:n.*158C>T
ENST00000546579.1:c.459C>T	ENSP00000447543.1:p.Pro153=
ENST00000546999.5:c.*158C>T	ENSP00000447675.1:n.*158C>T
ENST00000549376.1:n.122C>T
ENST00000552509.5:c.693C>T	ENSP00000450372.1:p.Pro231=
NM_001258333.1:c.105C>T	NP_001245262.1:p.Pro35=
NM_001258334.1:c.729C>T	NP_001245263.1:p.Pro243=
NM_002108.3:c.729C>T	NP_002099.1:p.Pro243=
XM_011538249.1:c.3+2161C>T	XP_011536551.1:n.3+2161C>T
XM_011538249.2:c.3+2161C>T	XP_011536551.1:n.3+2161C>T
NM_002108.4:c.729C>T MANE Select	NP_002099.1:p.Pro243=
NM_001258334.2:c.729C>T	NP_001245263.1:p.Pro243=
NM_001258333.2:c.105C>T	NP_001245262.1:p.Pro35=