Canonical Allele Identifier: CA386089804

Gene: HAL

Linked Data

• dbSNP Id: rs1257970099
• gnomAD v3: 12-95990481-T-C
• gnomAD v4: 12-95990481-T-C
• MyVariant Identifiers: chr12:g.96384259T>C (hg19) ; chr12:g.95990481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990481T>C , CM000674.2:g.95990481T>C	GRCh38
NC_000012.11:g.96384259T>C , CM000674.1:g.96384259T>C	GRCh37
NC_000012.10:g.94908390T>C	NCBI36
NG_008180.1:g.10813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.767A>G MANE Select	ENSP00000261208.3:p.Asp256Gly
ENST00000261208.7:c.767A>G	ENSP00000261208.3:p.Asp256Gly
ENST00000538703.5:c.767A>G	ENSP00000440861.1:p.Asp256Gly
ENST00000541929.5:c.143A>G	ENSP00000446364.1:p.Asp48Gly
ENST00000544080.6:c.*196A>G	ENSP00000439385.2:n.*196A>G
ENST00000546999.5:c.*196A>G	ENSP00000447675.1:n.*196A>G
ENST00000549376.1:n.160A>G
ENST00000551562.1:n.27A>G
ENST00000552509.5:c.731A>G	ENSP00000450372.1:p.Asp244Gly
NM_001258333.1:c.143A>G	NP_001245262.1:p.Asp48Gly
NM_001258334.1:c.767A>G	NP_001245263.1:p.Asp256Gly
NM_002108.3:c.767A>G	NP_002099.1:p.Asp256Gly
XM_011538249.1:c.3+2199A>G	XP_011536551.1:n.3+2199A>G
XM_011538249.2:c.3+2199A>G	XP_011536551.1:n.3+2199A>G
NM_002108.4:c.767A>G MANE Select	NP_002099.1:p.Asp256Gly
NM_001258334.2:c.767A>G	NP_001245263.1:p.Asp256Gly
NM_001258333.2:c.143A>G	NP_001245262.1:p.Asp48Gly