Canonical Allele Identifier: CA386089632

Gene: HAL

Linked Data

• dbSNP Id: rs1220609748
• gnomAD v3: 12-95990398-T-C
• gnomAD v4: 12-95990398-T-C
• MyVariant Identifiers: chr12:g.96384176T>C (hg19) ; chr12:g.95990398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990398T>C , CM000674.2:g.95990398T>C	GRCh38
NC_000012.11:g.96384176T>C , CM000674.1:g.96384176T>C	GRCh37
NC_000012.10:g.94908307T>C	NCBI36
NG_008180.1:g.10896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.850A>G MANE Select	ENSP00000261208.3:p.Lys284Glu
ENST00000261208.7:c.850A>G	ENSP00000261208.3:p.Lys284Glu
ENST00000538703.5:c.850A>G	ENSP00000440861.1:p.Lys284Glu
ENST00000541929.5:c.226A>G	ENSP00000446364.1:p.Lys76Glu
ENST00000544080.6:c.*279A>G	ENSP00000439385.2:n.*279A>G
ENST00000546999.5:c.*279A>G	ENSP00000447675.1:n.*279A>G
ENST00000549376.1:n.243A>G
ENST00000551562.1:n.110A>G
ENST00000552509.5:c.814A>G	ENSP00000450372.1:p.Lys272Glu
NM_001258333.1:c.226A>G	NP_001245262.1:p.Lys76Glu
NM_001258334.1:c.850A>G	NP_001245263.1:p.Lys284Glu
NM_002108.3:c.850A>G	NP_002099.1:p.Lys284Glu
XM_011538249.1:c.4-2158A>G	XP_011536551.1:n.4-2158A>G
XM_011538249.2:c.4-2158A>G	XP_011536551.1:n.4-2158A>G
NM_002108.4:c.850A>G MANE Select	NP_002099.1:p.Lys284Glu
NM_001258334.2:c.850A>G	NP_001245263.1:p.Lys284Glu
NM_001258333.2:c.226A>G	NP_001245262.1:p.Lys76Glu