Canonical Allele Identifier: CA6727851

Gene: HAL

Linked Data

• ClinVar Variation Id: 310716
• ClinVar RCV Id: RCV000395018 ; RCV003967905
• dbSNP Id: rs36014288
• ExAC: 12:96384249 T / C
• gnomAD v2: 12-96384249-T-C
• gnomAD v3: 12-95990471-T-C
• gnomAD v4: 12-95990471-T-C
• MyVariant Identifiers: chr12:g.96384249T>C (hg19) ; chr12:g.95990471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990471T>C , CM000674.2:g.95990471T>C	GRCh38
NC_000012.11:g.96384249T>C , CM000674.1:g.96384249T>C	GRCh37
NC_000012.10:g.94908380T>C	NCBI36
NG_008180.1:g.10823A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261208.8:c.777A>G MANE Select	ENSP00000261208.3:p.Pro259=
ENST00000261208.7:c.777A>G	ENSP00000261208.3:p.Pro259=
ENST00000538703.5:c.777A>G	ENSP00000440861.1:p.Pro259=
ENST00000541929.5:c.153A>G	ENSP00000446364.1:p.Pro51=
ENST00000544080.6:c.*206A>G	ENSP00000439385.2:n.*206A>G
ENST00000546999.5:c.*206A>G	ENSP00000447675.1:n.*206A>G
ENST00000549376.1:n.170A>G
ENST00000551562.1:n.37A>G
ENST00000552509.5:c.741A>G	ENSP00000450372.1:p.Pro247=
NM_001258333.1:c.153A>G	NP_001245262.1:p.Pro51=
NM_001258334.1:c.777A>G	NP_001245263.1:p.Pro259=
NM_002108.3:c.777A>G	NP_002099.1:p.Pro259=
XM_011538249.1:c.3+2209A>G	XP_011536551.1:n.3+2209A>G
XM_011538249.2:c.3+2209A>G	XP_011536551.1:n.3+2209A>G
NM_002108.4:c.777A>G MANE Select	NP_002099.1:p.Pro259=
NM_001258334.2:c.777A>G	NP_001245263.1:p.Pro259=
NM_001258333.2:c.153A>G	NP_001245262.1:p.Pro51=