Canonical Allele Identifier: CA386089703

Gene: HAL

Linked Data

• gnomAD v4: 12-95990431-T-C
• MyVariant Identifiers: chr12:g.96384209T>C (hg19) ; chr12:g.95990431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990431T>C , CM000674.2:g.95990431T>C	GRCh38
NC_000012.11:g.96384209T>C , CM000674.1:g.96384209T>C	GRCh37
NC_000012.10:g.94908340T>C	NCBI36
NG_008180.1:g.10863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.817A>G MANE Select	ENSP00000261208.3:p.Met273Val
ENST00000261208.7:c.817A>G	ENSP00000261208.3:p.Met273Val
ENST00000538703.5:c.817A>G	ENSP00000440861.1:p.Met273Val
ENST00000541929.5:c.193A>G	ENSP00000446364.1:p.Met65Val
ENST00000544080.6:c.*246A>G	ENSP00000439385.2:n.*246A>G
ENST00000546999.5:c.*246A>G	ENSP00000447675.1:n.*246A>G
ENST00000549376.1:n.210A>G
ENST00000551562.1:n.77A>G
ENST00000552509.5:c.781A>G	ENSP00000450372.1:p.Met261Val
NM_001258333.1:c.193A>G	NP_001245262.1:p.Met65Val
NM_001258334.1:c.817A>G	NP_001245263.1:p.Met273Val
NM_002108.3:c.817A>G	NP_002099.1:p.Met273Val
XM_011538249.1:c.4-2191A>G	XP_011536551.1:n.4-2191A>G
XM_011538249.2:c.4-2191A>G	XP_011536551.1:n.4-2191A>G
NM_002108.4:c.817A>G MANE Select	NP_002099.1:p.Met273Val
NM_001258334.2:c.817A>G	NP_001245263.1:p.Met273Val
NM_001258333.2:c.193A>G	NP_001245262.1:p.Met65Val