Canonical Allele Identifier: CA6727853

Gene: HAL

Linked Data

• dbSNP Id: rs765354935
• ExAC: 12:96384253 G / A
• gnomAD v2: 12-96384253-G-A
• gnomAD v4: 12-95990475-G-A
• MyVariant Identifiers: chr12:g.96384253G>A (hg19) ; chr12:g.95990475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990475G>A , CM000674.2:g.95990475G>A	GRCh38
NC_000012.11:g.96384253G>A , CM000674.1:g.96384253G>A	GRCh37
NC_000012.10:g.94908384G>A	NCBI36
NG_008180.1:g.10819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.773C>T MANE Select	ENSP00000261208.3:p.Ala258Val
ENST00000261208.7:c.773C>T	ENSP00000261208.3:p.Ala258Val
ENST00000538703.5:c.773C>T	ENSP00000440861.1:p.Ala258Val
ENST00000541929.5:c.149C>T	ENSP00000446364.1:p.Ala50Val
ENST00000544080.6:c.*202C>T	ENSP00000439385.2:n.*202C>T
ENST00000546999.5:c.*202C>T	ENSP00000447675.1:n.*202C>T
ENST00000549376.1:n.166C>T
ENST00000551562.1:n.33C>T
ENST00000552509.5:c.737C>T	ENSP00000450372.1:p.Ala246Val
NM_001258333.1:c.149C>T	NP_001245262.1:p.Ala50Val
NM_001258334.1:c.773C>T	NP_001245263.1:p.Ala258Val
NM_002108.3:c.773C>T	NP_002099.1:p.Ala258Val
XM_011538249.1:c.3+2205C>T	XP_011536551.1:n.3+2205C>T
XM_011538249.2:c.3+2205C>T	XP_011536551.1:n.3+2205C>T
NM_002108.4:c.773C>T MANE Select	NP_002099.1:p.Ala258Val
NM_001258334.2:c.773C>T	NP_001245263.1:p.Ala258Val
NM_001258333.2:c.149C>T	NP_001245262.1:p.Ala50Val