Canonical Allele Identifier: CA386089757

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384235G>T (hg19) ; chr12:g.95990457G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990457G>T , CM000674.2:g.95990457G>T	GRCh38
NC_000012.11:g.96384235G>T , CM000674.1:g.96384235G>T	GRCh37
NC_000012.10:g.94908366G>T	NCBI36
NG_008180.1:g.10837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.791C>A MANE Select	ENSP00000261208.3:p.Ala264Asp
ENST00000261208.7:c.791C>A	ENSP00000261208.3:p.Ala264Asp
ENST00000538703.5:c.791C>A	ENSP00000440861.1:p.Ala264Asp
ENST00000541929.5:c.167C>A	ENSP00000446364.1:p.Ala56Asp
ENST00000544080.6:c.*220C>A	ENSP00000439385.2:n.*220C>A
ENST00000546999.5:c.*220C>A	ENSP00000447675.1:n.*220C>A
ENST00000549376.1:n.184C>A
ENST00000551562.1:n.51C>A
ENST00000552509.5:c.755C>A	ENSP00000450372.1:p.Ala252Asp
NM_001258333.1:c.167C>A	NP_001245262.1:p.Ala56Asp
NM_001258334.1:c.791C>A	NP_001245263.1:p.Ala264Asp
NM_002108.3:c.791C>A	NP_002099.1:p.Ala264Asp
XM_011538249.1:c.4-2217C>A	XP_011536551.1:n.4-2217C>A
XM_011538249.2:c.4-2217C>A	XP_011536551.1:n.4-2217C>A
NM_002108.4:c.791C>A MANE Select	NP_002099.1:p.Ala264Asp
NM_001258334.2:c.791C>A	NP_001245263.1:p.Ala264Asp
NM_001258333.2:c.167C>A	NP_001245262.1:p.Ala56Asp