Canonical Allele Identifier: CA241419582

Gene: HAL

Linked Data

• dbSNP Id: rs551328893
• gnomAD v2: 12-96384489-A-C
• gnomAD v3: 12-95990711-A-C
• gnomAD v4: 12-95990711-A-C
• MyVariant Identifiers: chr12:g.96384489A>C (hg19) ; chr12:g.95990711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990711A>C , CM000674.2:g.95990711A>C	GRCh38
NC_000012.11:g.96384489A>C , CM000674.1:g.96384489A>C	GRCh37
NC_000012.10:g.94908620A>C	NCBI36
NG_008180.1:g.10583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-179T>G MANE Select	ENSP00000261208.3:n.716-179T>G
ENST00000261208.7:c.716-179T>G	ENSP00000261208.3:n.716-179T>G
ENST00000538703.5:c.716-179T>G	ENSP00000440861.1:n.716-179T>G
ENST00000541929.5:c.92-179T>G	ENSP00000446364.1:n.92-179T>G
ENST00000544080.6:c.*145-179T>G	ENSP00000439385.2:n.*145-179T>G
ENST00000546579.1:c.446-179T>G	ENSP00000447543.1:n.446-179T>G
ENST00000546999.5:c.*145-179T>G	ENSP00000447675.1:n.*145-179T>G
ENST00000549376.1:n.109-179T>G
ENST00000552509.5:c.680-179T>G	ENSP00000450372.1:n.680-179T>G
NM_001258333.1:c.92-179T>G	NP_001245262.1:n.92-179T>G
NM_001258334.1:c.716-179T>G	NP_001245263.1:n.716-179T>G
NM_002108.3:c.716-179T>G	NP_002099.1:n.716-179T>G
XM_011538249.1:c.3+1969T>G	XP_011536551.1:n.3+1969T>G
XM_011538249.2:c.3+1969T>G	XP_011536551.1:n.3+1969T>G
NM_002108.4:c.716-179T>G MANE Select	NP_002099.1:n.716-179T>G
NM_001258334.2:c.716-179T>G	NP_001245263.1:n.716-179T>G
NM_001258333.2:c.92-179T>G	NP_001245262.1:n.92-179T>G