Canonical Allele Identifier: CA386086584

Gene: HAL

Linked Data

• gnomAD v4: 12-95980861-C-A
• MyVariant Identifiers: chr12:g.96374639C>A (hg19) ; chr12:g.95980861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980861C>A , CM000674.2:g.95980861C>A	GRCh38
NC_000012.11:g.96374639C>A , CM000674.1:g.96374639C>A	GRCh37
NC_000012.10:g.94898770C>A	NCBI36
NG_008180.1:g.20433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1290G>T MANE Select	ENSP00000261208.3:p.Met430Ile
ENST00000261208.7:c.1290G>T	ENSP00000261208.3:p.Met430Ile
ENST00000538703.5:c.1290G>T	ENSP00000440861.1:p.Met430Ile
ENST00000541929.5:c.666G>T	ENSP00000446364.1:p.Met222Ile
ENST00000544080.6:c.*719G>T	ENSP00000439385.2:n.*719G>T
ENST00000546999.5:c.*719G>T	ENSP00000447675.1:n.*719G>T
NM_001258333.1:c.666G>T	NP_001245262.1:p.Met222Ile
NM_001258334.1:c.1290G>T	NP_001245263.1:p.Met430Ile
NM_002108.3:c.1290G>T	NP_002099.1:p.Met430Ile
XM_011538249.1:c.438G>T	XP_011536551.1:p.Met146Ile
XM_011538249.2:c.438G>T	XP_011536551.1:p.Met146Ile
XM_017019246.1:c.360G>T	XP_016874735.1:p.Met120Ile
NM_002108.4:c.1290G>T MANE Select	NP_002099.1:p.Met430Ile
NM_001258334.2:c.1290G>T	NP_001245263.1:p.Met430Ile
NM_001258333.2:c.666G>T	NP_001245262.1:p.Met222Ile