Canonical Allele Identifier: CA693811356

Gene: HAL

Linked Data

• dbSNP Id: rs1393682968
• gnomAD v4: 12-95980898-T-G
• MyVariant Identifiers: chr12:g.96374676T>G (hg19) ; chr12:g.95980898T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980898T>G , CM000674.2:g.95980898T>G	GRCh38
NC_000012.11:g.96374676T>G , CM000674.1:g.96374676T>G	GRCh37
NC_000012.10:g.94898807T>G	NCBI36
NG_008180.1:g.20396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1288-35A>C MANE Select	ENSP00000261208.3:n.1288-35A>C
ENST00000261208.7:c.1288-35A>C	ENSP00000261208.3:n.1288-35A>C
ENST00000538703.5:c.1288-35A>C	ENSP00000440861.1:n.1288-35A>C
ENST00000541929.5:c.664-35A>C	ENSP00000446364.1:n.664-35A>C
ENST00000544080.6:c.*717-35A>C	ENSP00000439385.2:n.*717-35A>C
ENST00000546999.5:c.*717-35A>C	ENSP00000447675.1:n.*717-35A>C
NM_001258333.1:c.664-35A>C	NP_001245262.1:n.664-35A>C
NM_001258334.1:c.1288-35A>C	NP_001245263.1:n.1288-35A>C
NM_002108.3:c.1288-35A>C	NP_002099.1:n.1288-35A>C
XM_011538249.1:c.436-35A>C	XP_011536551.1:n.436-35A>C
XM_011538249.2:c.436-35A>C	XP_011536551.1:n.436-35A>C
XM_017019246.1:c.358-35A>C	XP_016874735.1:n.358-35A>C
NM_002108.4:c.1288-35A>C MANE Select	NP_002099.1:n.1288-35A>C
NM_001258334.2:c.1288-35A>C	NP_001245263.1:n.1288-35A>C
NM_001258333.2:c.664-35A>C	NP_001245262.1:n.664-35A>C