Canonical Allele Identifier: CA6727622

Gene: HAL

Linked Data

• ClinVar Variation Id: 310710
• ClinVar RCV Id: RCV000385709 ; RCV003983013
• dbSNP Id: rs7297245
• ExAC: 12:96374614 C / T
• gnomAD v2: 12-96374614-C-T
• gnomAD v3: 12-95980836-C-T
• gnomAD v4: 12-95980836-C-T
• MyVariant Identifiers: chr12:g.96374614C>T (hg19) ; chr12:g.95980836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980836C>T , CM000674.2:g.95980836C>T	GRCh38
NC_000012.11:g.96374614C>T , CM000674.1:g.96374614C>T	GRCh37
NC_000012.10:g.94898745C>T	NCBI36
NG_008180.1:g.20458G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.1315G>A MANE Select	ENSP00000261208.3:p.Val439Ile
ENST00000261208.7:c.1315G>A	ENSP00000261208.3:p.Val439Ile
ENST00000538703.5:c.1315G>A	ENSP00000440861.1:p.Val439Ile
ENST00000541929.5:c.691G>A	ENSP00000446364.1:p.Val231Ile
ENST00000544080.6:c.*744G>A	ENSP00000439385.2:n.*744G>A
ENST00000546999.5:c.*744G>A	ENSP00000447675.1:n.*744G>A
NM_001258333.1:c.691G>A	NP_001245262.1:p.Val231Ile
NM_001258334.1:c.1315G>A	NP_001245263.1:p.Val439Ile
NM_002108.3:c.1315G>A	NP_002099.1:p.Val439Ile
XM_011538249.1:c.463G>A	XP_011536551.1:p.Val155Ile
XM_011538249.2:c.463G>A	XP_011536551.1:p.Val155Ile
XM_017019246.1:c.385G>A	XP_016874735.1:p.Val129Ile
NM_002108.4:c.1315G>A MANE Select	NP_002099.1:p.Val439Ile
NM_001258334.2:c.1315G>A	NP_001245263.1:p.Val439Ile
NM_001258333.2:c.691G>A	NP_001245262.1:p.Val231Ile