Canonical Allele Identifier: CA115144

Gene: HAL

Linked Data

• ClinVar Variation Id: 1690
• ClinVar RCV Id: RCV000001758
• dbSNP Id: rs121434328
• gnomAD v4: 12-95992772-C-A
• MyVariant Identifiers: chr12:g.96386550C>A (hg19) ; chr12:g.95992772C>A (hg38)
• PubMed: PMID:15806399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95992772C>A , CM000674.2:g.95992772C>A	GRCh38
NC_000012.11:g.96386550C>A , CM000674.1:g.96386550C>A	GRCh37
NC_000012.10:g.94910681C>A	NCBI36
NG_008180.1:g.8522G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.623G>T MANE Select	ENSP00000261208.3:p.Arg208Leu
ENST00000261208.7:c.623G>T	ENSP00000261208.3:p.Arg208Leu
ENST00000538703.5:c.623G>T	ENSP00000440861.1:p.Arg208Leu
ENST00000541929.5:c.-2G>T	ENSP00000446364.1:n.-2G>T
ENST00000544080.6:c.*52G>T	ENSP00000439385.2:n.*52G>T
ENST00000546579.1:c.353G>T	ENSP00000447543.1:p.Arg118Leu
ENST00000546999.5:c.*52G>T	ENSP00000447675.1:n.*52G>T
ENST00000549376.1:n.16G>T
ENST00000552509.5:c.587G>T	ENSP00000450372.1:p.Arg196Leu
NM_001258333.1:c.-2G>T	NP_001245262.1:n.-2G>T
NM_001258334.1:c.623G>T	NP_001245263.1:p.Arg208Leu
NM_002108.3:c.623G>T	NP_002099.1:p.Arg208Leu
NM_002108.4:c.623G>T MANE Select	NP_002099.1:p.Arg208Leu
NM_001258334.2:c.623G>T	NP_001245263.1:p.Arg208Leu
NM_001258333.2:c.-2G>T	NP_001245262.1:n.-2G>T