Canonical Allele Identifier: CA386089695

Gene: HAL

Linked Data

• gnomAD v4: 12-95990428-A-C
• MyVariant Identifiers: chr12:g.96384206A>C (hg19) ; chr12:g.95990428A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990428A>C , CM000674.2:g.95990428A>C	GRCh38
NC_000012.11:g.96384206A>C , CM000674.1:g.96384206A>C	GRCh37
NC_000012.10:g.94908337A>C	NCBI36
NG_008180.1:g.10866T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.820T>G MANE Select	ENSP00000261208.3:p.Trp274Gly
ENST00000261208.7:c.820T>G	ENSP00000261208.3:p.Trp274Gly
ENST00000538703.5:c.820T>G	ENSP00000440861.1:p.Trp274Gly
ENST00000541929.5:c.196T>G	ENSP00000446364.1:p.Trp66Gly
ENST00000544080.6:c.*249T>G	ENSP00000439385.2:n.*249T>G
ENST00000546999.5:c.*249T>G	ENSP00000447675.1:n.*249T>G
ENST00000549376.1:n.213T>G
ENST00000551562.1:n.80T>G
ENST00000552509.5:c.784T>G	ENSP00000450372.1:p.Trp262Gly
NM_001258333.1:c.196T>G	NP_001245262.1:p.Trp66Gly
NM_001258334.1:c.820T>G	NP_001245263.1:p.Trp274Gly
NM_002108.3:c.820T>G	NP_002099.1:p.Trp274Gly
XM_011538249.1:c.4-2188T>G	XP_011536551.1:n.4-2188T>G
XM_011538249.2:c.4-2188T>G	XP_011536551.1:n.4-2188T>G
NM_002108.4:c.820T>G MANE Select	NP_002099.1:p.Trp274Gly
NM_001258334.2:c.820T>G	NP_001245263.1:p.Trp274Gly
NM_001258333.2:c.196T>G	NP_001245262.1:p.Trp66Gly