Canonical Allele Identifier: CA2575252581

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980787A>T , CM000674.2:g.95980787A>T	GRCh38
NC_000012.11:g.96374565A>T , CM000674.1:g.96374565A>T	GRCh37
NC_000012.10:g.94898696A>T	NCBI36
NG_008180.1:g.20507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1353+11T>A MANE Select	ENSP00000261208.3:n.1353+11T>A
ENST00000261208.7:c.1353+11T>A	ENSP00000261208.3:n.1353+11T>A
ENST00000538703.5:c.1353+11T>A	ENSP00000440861.1:n.1353+11T>A
ENST00000541929.5:c.729+11T>A	ENSP00000446364.1:n.729+11T>A
ENST00000544080.6:c.*782+11T>A	ENSP00000439385.2:n.*782+11T>A
ENST00000546999.5:c.*765+28T>A	ENSP00000447675.1:n.*765+28T>A
NM_001258333.1:c.729+11T>A	NP_001245262.1:n.729+11T>A
NM_001258334.1:c.1353+11T>A	NP_001245263.1:n.1353+11T>A
NM_002108.3:c.1353+11T>A	NP_002099.1:n.1353+11T>A
XM_011538249.1:c.501+11T>A	XP_011536551.1:n.501+11T>A
XM_011538249.2:c.501+11T>A	XP_011536551.1:n.501+11T>A
XM_017019246.1:c.423+11T>A	XP_016874735.1:n.423+11T>A
NM_002108.4:c.1353+11T>A MANE Select	NP_002099.1:n.1353+11T>A
NM_001258334.2:c.1353+11T>A	NP_001245263.1:n.1353+11T>A
NM_001258333.2:c.729+11T>A	NP_001245262.1:n.729+11T>A