Canonical Allele Identifier: CA2620277812

Gene: HAL

Linked Data

• gnomAD v4: 12-95980910-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980910C>T , CM000674.2:g.95980910C>T	GRCh38
NC_000012.11:g.96374688C>T , CM000674.1:g.96374688C>T	GRCh37
NC_000012.10:g.94898819C>T	NCBI36
NG_008180.1:g.20384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1288-47G>A MANE Select	ENSP00000261208.3:n.1288-47G>A
ENST00000261208.7:c.1288-47G>A	ENSP00000261208.3:n.1288-47G>A
ENST00000538703.5:c.1288-47G>A	ENSP00000440861.1:n.1288-47G>A
ENST00000541929.5:c.664-47G>A	ENSP00000446364.1:n.664-47G>A
ENST00000544080.6:c.*717-47G>A	ENSP00000439385.2:n.*717-47G>A
ENST00000546999.5:c.*717-47G>A	ENSP00000447675.1:n.*717-47G>A
NM_001258333.1:c.664-47G>A	NP_001245262.1:n.664-47G>A
NM_001258334.1:c.1288-47G>A	NP_001245263.1:n.1288-47G>A
NM_002108.3:c.1288-47G>A	NP_002099.1:n.1288-47G>A
XM_011538249.1:c.436-47G>A	XP_011536551.1:n.436-47G>A
XM_011538249.2:c.436-47G>A	XP_011536551.1:n.436-47G>A
XM_017019246.1:c.358-47G>A	XP_016874735.1:n.358-47G>A
NM_002108.4:c.1288-47G>A MANE Select	NP_002099.1:n.1288-47G>A
NM_001258334.2:c.1288-47G>A	NP_001245263.1:n.1288-47G>A
NM_001258333.2:c.664-47G>A	NP_001245262.1:n.664-47G>A