Canonical Allele Identifier: CA481434402

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96374609A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980831A>T , CM000674.2:g.95980831A>T	GRCh38
NC_000012.11:g.96374609A>T , CM000674.1:g.96374609A>T	GRCh37
NC_000012.10:g.94898740A>T	NCBI36
NG_008180.1:g.20463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1320T>A MANE Select	ENSP00000261208.3:p.Ser440=
ENST00000261208.7:c.1320T>A	ENSP00000261208.3:p.Ser440=
ENST00000538703.5:c.1320T>A	ENSP00000440861.1:p.Ser440=
ENST00000541929.5:c.696T>A	ENSP00000446364.1:p.Ser232=
ENST00000544080.6:c.*749T>A	ENSP00000439385.2:n.*749T>A
ENST00000546999.5:c.*749T>A	ENSP00000447675.1:n.*749T>A
NM_001258333.1:c.696T>A	NP_001245262.1:p.Ser232=
NM_001258334.1:c.1320T>A	NP_001245263.1:p.Ser440=
NM_002108.3:c.1320T>A	NP_002099.1:p.Ser440=
XM_011538249.1:c.468T>A	XP_011536551.1:p.Ser156=
XM_011538249.2:c.468T>A	XP_011536551.1:p.Ser156=
XM_017019246.1:c.390T>A	XP_016874735.1:p.Ser130=
NM_002108.4:c.1320T>A MANE Select	NP_002099.1:p.Ser440=
NM_001258334.2:c.1320T>A	NP_001245263.1:p.Ser440=
NM_001258333.2:c.696T>A	NP_001245262.1:p.Ser232=