Canonical Allele Identifier: CA2620282656

Gene: HAL

Linked Data

• gnomAD v4: 12-95990597-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990597G>T , CM000674.2:g.95990597G>T	GRCh38
NC_000012.11:g.96384375G>T , CM000674.1:g.96384375G>T	GRCh37
NC_000012.10:g.94908506G>T	NCBI36
NG_008180.1:g.10697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-65C>A MANE Select	ENSP00000261208.3:n.716-65C>A
ENST00000261208.7:c.716-65C>A	ENSP00000261208.3:n.716-65C>A
ENST00000538703.5:c.716-65C>A	ENSP00000440861.1:n.716-65C>A
ENST00000541929.5:c.92-65C>A	ENSP00000446364.1:n.92-65C>A
ENST00000544080.6:c.*145-65C>A	ENSP00000439385.2:n.*145-65C>A
ENST00000546579.1:c.446-65C>A	ENSP00000447543.1:n.446-65C>A
ENST00000546999.5:c.*145-65C>A	ENSP00000447675.1:n.*145-65C>A
ENST00000549376.1:n.109-65C>A
ENST00000552509.5:c.680-65C>A	ENSP00000450372.1:n.680-65C>A
NM_001258333.1:c.92-65C>A	NP_001245262.1:n.92-65C>A
NM_001258334.1:c.716-65C>A	NP_001245263.1:n.716-65C>A
NM_002108.3:c.716-65C>A	NP_002099.1:n.716-65C>A
XM_011538249.1:c.3+2083C>A	XP_011536551.1:n.3+2083C>A
XM_011538249.2:c.3+2083C>A	XP_011536551.1:n.3+2083C>A
NM_002108.4:c.716-65C>A MANE Select	NP_002099.1:n.716-65C>A
NM_001258334.2:c.716-65C>A	NP_001245263.1:n.716-65C>A
NM_001258333.2:c.92-65C>A	NP_001245262.1:n.92-65C>A