Canonical Allele Identifier: CA6727622
Gene: HAL HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.95980836C>T
GRCh37 chr12:g.96374614C>T
Revel Score:
ENST00000261208 (MANE Select) 0.204
ENST00000541929 0.204
ENST00000538703 0.204
gnomAD v2:
12:96374614 C / T
gnomAD v3:
12:95980836 C / T
gnomAD v4:
chr12-95980836-C-T
Joint Max Group AF 0.95721218 (AFR)
Genomes Max Group AF 0.95025214 (AFR)
Exomes Max Group AF 0.9605056 (AFR)
ClinVar RCV:
RCV000385709
RCV003983013
ClinVar Variation:
310710
dbSNP:
7297245
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95980836C>T , CM000674.2:g.95980836C>T GRCh38
NC_000012.11:g.96374614C>T , CM000674.1:g.96374614C>T GRCh37
NC_000012.10:g.94898745C>T NCBI36
NG_008180.1:g.20458G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.1315G>A MANE Select ENSP00000261208.3:p.Val439Ile
ENST00000261208.7:c.1315G>A ENSP00000261208.3:p.Val439Ile
ENST00000538703.5:c.1315G>A ENSP00000440861.1:p.Val439Ile
ENST00000541929.5:c.691G>A ENSP00000446364.1:p.Val231Ile
ENST00000544080.6:c.*744G>A ENSP00000439385.2:n.*744G>A
ENST00000546999.5:c.*744G>A ENSP00000447675.1:n.*744G>A
NM_001258333.1:c.691G>A NP_001245262.1:p.Val231Ile
NM_001258334.1:c.1315G>A NP_001245263.1:p.Val439Ile
NM_002108.3:c.1315G>A NP_002099.1:p.Val439Ile
XM_011538249.1:c.463G>A XP_011536551.1:p.Val155Ile
XM_011538249.2:c.463G>A XP_011536551.1:p.Val155Ile
XM_017019246.1:c.385G>A XP_016874735.1:p.Val129Ile
NM_002108.4:c.1315G>A MANE Select NP_002099.1:p.Val439Ile
NM_001258334.2:c.1315G>A NP_001245263.1:p.Val439Ile
NM_001258333.2:c.691G>A NP_001245262.1:p.Val231Ile
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