Canonical Allele Identifier: CA6727847

Gene: HAL

Linked Data

• dbSNP Id: rs758925101
• ExAC: 12:96384227 G / A
• gnomAD v2: 12-96384227-G-A
• MyVariant Identifiers: chr12:g.96384227G>A (hg19) ; chr12:g.95990449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990449G>A , CM000674.2:g.95990449G>A	GRCh38
NC_000012.11:g.96384227G>A , CM000674.1:g.96384227G>A	GRCh37
NC_000012.10:g.94908358G>A	NCBI36
NG_008180.1:g.10845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.799C>T MANE Select	ENSP00000261208.3:p.Leu267=
ENST00000261208.7:c.799C>T	ENSP00000261208.3:p.Leu267=
ENST00000538703.5:c.799C>T	ENSP00000440861.1:p.Leu267=
ENST00000541929.5:c.175C>T	ENSP00000446364.1:p.Leu59=
ENST00000544080.6:c.*228C>T	ENSP00000439385.2:n.*228C>T
ENST00000546999.5:c.*228C>T	ENSP00000447675.1:n.*228C>T
ENST00000549376.1:n.192C>T
ENST00000551562.1:n.59C>T
ENST00000552509.5:c.763C>T	ENSP00000450372.1:p.Leu255=
NM_001258333.1:c.175C>T	NP_001245262.1:p.Leu59=
NM_001258334.1:c.799C>T	NP_001245263.1:p.Leu267=
NM_002108.3:c.799C>T	NP_002099.1:p.Leu267=
XM_011538249.1:c.4-2209C>T	XP_011536551.1:n.4-2209C>T
XM_011538249.2:c.4-2209C>T	XP_011536551.1:n.4-2209C>T
NM_002108.4:c.799C>T MANE Select	NP_002099.1:p.Leu267=
NM_001258334.2:c.799C>T	NP_001245263.1:p.Leu267=
NM_001258333.2:c.175C>T	NP_001245262.1:p.Leu59=