Canonical Allele Identifier: CA386086579

Gene: HAL

Linked Data

• gnomAD v4: 12-95980857-A-G
• MyVariant Identifiers: chr12:g.96374635A>G (hg19) ; chr12:g.95980857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980857A>G , CM000674.2:g.95980857A>G	GRCh38
NC_000012.11:g.96374635A>G , CM000674.1:g.96374635A>G	GRCh37
NC_000012.10:g.94898766A>G	NCBI36
NG_008180.1:g.20437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1294T>C MANE Select	ENSP00000261208.3:p.Phe432Leu
ENST00000261208.7:c.1294T>C	ENSP00000261208.3:p.Phe432Leu
ENST00000538703.5:c.1294T>C	ENSP00000440861.1:p.Phe432Leu
ENST00000541929.5:c.670T>C	ENSP00000446364.1:p.Phe224Leu
ENST00000544080.6:c.*723T>C	ENSP00000439385.2:n.*723T>C
ENST00000546999.5:c.*723T>C	ENSP00000447675.1:n.*723T>C
NM_001258333.1:c.670T>C	NP_001245262.1:p.Phe224Leu
NM_001258334.1:c.1294T>C	NP_001245263.1:p.Phe432Leu
NM_002108.3:c.1294T>C	NP_002099.1:p.Phe432Leu
XM_011538249.1:c.442T>C	XP_011536551.1:p.Phe148Leu
XM_011538249.2:c.442T>C	XP_011536551.1:p.Phe148Leu
XM_017019246.1:c.364T>C	XP_016874735.1:p.Phe122Leu
NM_002108.4:c.1294T>C MANE Select	NP_002099.1:p.Phe432Leu
NM_001258334.2:c.1294T>C	NP_001245263.1:p.Phe432Leu
NM_001258333.2:c.670T>C	NP_001245262.1:p.Phe224Leu