Canonical Allele Identifier: CA6727528

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95978014C>T , CM000674.2:g.95978014C>T	GRCh38
NC_000012.11:g.96371792C>T , CM000674.1:g.96371792C>T	GRCh37
NC_000012.10:g.94895923C>T	NCBI36
NG_008180.1:g.23280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1584G>A MANE Select	ENSP00000261208.3:p.Thr528=
ENST00000261208.7:c.1584G>A	ENSP00000261208.3:p.Thr528=
ENST00000538703.5:c.1584G>A	ENSP00000440861.1:p.Thr528=
ENST00000541929.5:c.960G>A	ENSP00000446364.1:p.Thr320=
ENST00000544080.6:c.*1013G>A	ENSP00000439385.2:n.*1013G>A
ENST00000546999.5:c.*996G>A	ENSP00000447675.1:n.*996G>A
ENST00000548808.1:c.178G>A
NM_001258333.1:c.960G>A	NP_001245262.1:p.Thr320=
NM_001258334.1:c.1584G>A	NP_001245263.1:p.Thr528=
NM_002108.3:c.1584G>A	NP_002099.1:p.Thr528=
XM_011538249.1:c.732G>A	XP_011536551.1:p.Thr244=
XM_011538249.2:c.732G>A	XP_011536551.1:p.Thr244=
XM_017019246.1:c.654G>A	XP_016874735.1:p.Thr218=
NM_002108.4:c.1584G>A MANE Select	NP_002099.1:p.Thr528=
NM_001258334.2:c.1584G>A	NP_001245263.1:p.Thr528=
NM_001258333.2:c.960G>A	NP_001245262.1:p.Thr320=