Canonical Allele Identifier: CA386089836

Gene: HAL

Linked Data

• gnomAD v4: 12-95990497-C-A
• MyVariant Identifiers: chr12:g.96384275C>A (hg19) ; chr12:g.95990497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990497C>A , CM000674.2:g.95990497C>A	GRCh38
NC_000012.11:g.96384275C>A , CM000674.1:g.96384275C>A	GRCh37
NC_000012.10:g.94908406C>A	NCBI36
NG_008180.1:g.10797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.751G>T MANE Select	ENSP00000261208.3:p.Val251Phe
ENST00000261208.7:c.751G>T	ENSP00000261208.3:p.Val251Phe
ENST00000538703.5:c.751G>T	ENSP00000440861.1:p.Val251Phe
ENST00000541929.5:c.127G>T	ENSP00000446364.1:p.Val43Phe
ENST00000544080.6:c.*180G>T	ENSP00000439385.2:n.*180G>T
ENST00000546999.5:c.*180G>T	ENSP00000447675.1:n.*180G>T
ENST00000549376.1:n.144G>T
ENST00000551562.1:n.11G>T
ENST00000552509.5:c.715G>T	ENSP00000450372.1:p.Val239Phe
NM_001258333.1:c.127G>T	NP_001245262.1:p.Val43Phe
NM_001258334.1:c.751G>T	NP_001245263.1:p.Val251Phe
NM_002108.3:c.751G>T	NP_002099.1:p.Val251Phe
XM_011538249.1:c.3+2183G>T	XP_011536551.1:n.3+2183G>T
XM_011538249.2:c.3+2183G>T	XP_011536551.1:n.3+2183G>T
NM_002108.4:c.751G>T MANE Select	NP_002099.1:p.Val251Phe
NM_001258334.2:c.751G>T	NP_001245263.1:p.Val251Phe
NM_001258333.2:c.127G>T	NP_001245262.1:p.Val43Phe