Canonical Allele Identifier: CA481434381

Gene: HAL

Linked Data

• dbSNP Id: rs1255077457
• gnomAD v2: 12-96374579-G-C
• gnomAD v4: 12-95980801-G-C
• MyVariant Identifiers: chr12:g.96374579G>C (hg19) ; chr12:g.95980801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980801G>C , CM000674.2:g.95980801G>C	GRCh38
NC_000012.11:g.96374579G>C , CM000674.1:g.96374579G>C	GRCh37
NC_000012.10:g.94898710G>C	NCBI36
NG_008180.1:g.20493C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1350C>G MANE Select	ENSP00000261208.3:p.Ala450=
ENST00000261208.7:c.1350C>G	ENSP00000261208.3:p.Ala450=
ENST00000538703.5:c.1350C>G	ENSP00000440861.1:p.Ala450=
ENST00000541929.5:c.726C>G	ENSP00000446364.1:p.Ala242=
ENST00000544080.6:c.*779C>G	ENSP00000439385.2:n.*779C>G
ENST00000546999.5:c.*765+14C>G	ENSP00000447675.1:n.*765+14C>G
NM_001258333.1:c.726C>G	NP_001245262.1:p.Ala242=
NM_001258334.1:c.1350C>G	NP_001245263.1:p.Ala450=
NM_002108.3:c.1350C>G	NP_002099.1:p.Ala450=
XM_011538249.1:c.498C>G	XP_011536551.1:p.Ala166=
XM_011538249.2:c.498C>G	XP_011536551.1:p.Ala166=
XM_017019246.1:c.420C>G	XP_016874735.1:p.Ala140=
NM_002108.4:c.1350C>G MANE Select	NP_002099.1:p.Ala450=
NM_001258334.2:c.1350C>G	NP_001245263.1:p.Ala450=
NM_001258333.2:c.726C>G	NP_001245262.1:p.Ala242=