Canonical Allele Identifier: CA241419136

Gene: HAL

Linked Data

• dbSNP Id: rs1028359811
• gnomAD v2: 12-96383897-G-T
• gnomAD v3: 12-95990119-G-T
• gnomAD v4: 12-95990119-G-T
• MyVariant Identifiers: chr12:g.96383897G>T (hg19) ; chr12:g.95990119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990119G>T , CM000674.2:g.95990119G>T	GRCh38
NC_000012.11:g.96383897G>T , CM000674.1:g.96383897G>T	GRCh37
NC_000012.10:g.94908028G>T	NCBI36
NG_008180.1:g.11175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+274C>A MANE Select	ENSP00000261208.3:n.855+274C>A
ENST00000261208.7:c.855+274C>A	ENSP00000261208.3:n.855+274C>A
ENST00000538703.5:c.855+274C>A	ENSP00000440861.1:n.855+274C>A
ENST00000541929.5:c.231+274C>A	ENSP00000446364.1:n.231+274C>A
ENST00000544080.6:c.*284+274C>A	ENSP00000439385.2:n.*284+274C>A
ENST00000546999.5:c.*284+274C>A	ENSP00000447675.1:n.*284+274C>A
ENST00000551562.1:n.116-222C>A
ENST00000552509.5:c.819+274C>A	ENSP00000450372.1:n.819+274C>A
NM_001258333.1:c.231+274C>A	NP_001245262.1:n.231+274C>A
NM_001258334.1:c.855+274C>A	NP_001245263.1:n.855+274C>A
NM_002108.3:c.855+274C>A	NP_002099.1:n.855+274C>A
XM_011538249.1:c.4-1879C>A	XP_011536551.1:n.4-1879C>A
XM_011538249.2:c.4-1879C>A	XP_011536551.1:n.4-1879C>A
XM_017019246.1:c.-353C>A	XP_016874735.1:n.-353C>A
NM_002108.4:c.855+274C>A MANE Select	NP_002099.1:n.855+274C>A
NM_001258334.2:c.855+274C>A	NP_001245263.1:n.855+274C>A
NM_001258333.2:c.231+274C>A	NP_001245262.1:n.231+274C>A