Canonical Allele Identifier: CA386089625

Gene: HAL

Linked Data

• dbSNP Id: rs1668693273
• gnomAD v3: 12-95990395-A-T
• gnomAD v4: 12-95990395-A-T
• MyVariant Identifiers: chr12:g.96384173A>T (hg19) ; chr12:g.95990395A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990395A>T , CM000674.2:g.95990395A>T	GRCh38
NC_000012.11:g.96384173A>T , CM000674.1:g.96384173A>T	GRCh37
NC_000012.10:g.94908304A>T	NCBI36
NG_008180.1:g.10899T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.853T>A MANE Select	ENSP00000261208.3:p.Tyr285Asn
ENST00000261208.7:c.853T>A	ENSP00000261208.3:p.Tyr285Asn
ENST00000538703.5:c.853T>A	ENSP00000440861.1:p.Tyr285Asn
ENST00000541929.5:c.229T>A	ENSP00000446364.1:p.Tyr77Asn
ENST00000544080.6:c.*282T>A	ENSP00000439385.2:n.*282T>A
ENST00000546999.5:c.*282T>A	ENSP00000447675.1:n.*282T>A
ENST00000549376.1:n.246T>A
ENST00000551562.1:n.113T>A
ENST00000552509.5:c.817T>A	ENSP00000450372.1:p.Tyr273Asn
NM_001258333.1:c.229T>A	NP_001245262.1:p.Tyr77Asn
NM_001258334.1:c.853T>A	NP_001245263.1:p.Tyr285Asn
NM_002108.3:c.853T>A	NP_002099.1:p.Tyr285Asn
XM_011538249.1:c.4-2155T>A	XP_011536551.1:n.4-2155T>A
XM_011538249.2:c.4-2155T>A	XP_011536551.1:n.4-2155T>A
NM_002108.4:c.853T>A MANE Select	NP_002099.1:p.Tyr285Asn
NM_001258334.2:c.853T>A	NP_001245263.1:p.Tyr285Asn
NM_001258333.2:c.229T>A	NP_001245262.1:p.Tyr77Asn