Canonical Allele Identifier: CA6727864

Gene: HAL

Linked Data

• ClinVar Variation Id: 716289
• ClinVar RCV Id: RCV000888917
• dbSNP Id: rs201545675
• ExAC: 12:96384309 G / A
• gnomAD v2: 12-96384309-G-A
• gnomAD v3: 12-95990531-G-A
• gnomAD v4: 12-95990531-G-A
• MyVariant Identifiers: chr12:g.96384309G>A (hg19) ; chr12:g.95990531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990531G>A , CM000674.2:g.95990531G>A	GRCh38
NC_000012.11:g.96384309G>A , CM000674.1:g.96384309G>A	GRCh37
NC_000012.10:g.94908440G>A	NCBI36
NG_008180.1:g.10763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.717C>T MANE Select	ENSP00000261208.3:p.Ala239=
ENST00000261208.7:c.717C>T	ENSP00000261208.3:p.Ala239=
ENST00000538703.5:c.717C>T	ENSP00000440861.1:p.Ala239=
ENST00000541929.5:c.93C>T	ENSP00000446364.1:p.Ala31=
ENST00000544080.6:c.*146C>T	ENSP00000439385.2:n.*146C>T
ENST00000546579.1:c.447C>T	ENSP00000447543.1:p.Ala149=
ENST00000546999.5:c.*146C>T	ENSP00000447675.1:n.*146C>T
ENST00000549376.1:n.110C>T
ENST00000552509.5:c.681C>T	ENSP00000450372.1:p.Ala227=
NM_001258333.1:c.93C>T	NP_001245262.1:p.Ala31=
NM_001258334.1:c.717C>T	NP_001245263.1:p.Ala239=
NM_002108.3:c.717C>T	NP_002099.1:p.Ala239=
XM_011538249.1:c.3+2149C>T	XP_011536551.1:n.3+2149C>T
XM_011538249.2:c.3+2149C>T	XP_011536551.1:n.3+2149C>T
NM_002108.4:c.717C>T MANE Select	NP_002099.1:p.Ala239=
NM_001258334.2:c.717C>T	NP_001245263.1:p.Ala239=
NM_001258333.2:c.93C>T	NP_001245262.1:p.Ala31=