Canonical Allele Identifier: CA481434420

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96374636G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980858G>C , CM000674.2:g.95980858G>C	GRCh38
NC_000012.11:g.96374636G>C , CM000674.1:g.96374636G>C	GRCh37
NC_000012.10:g.94898767G>C	NCBI36
NG_008180.1:g.20436C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1293C>G MANE Select	ENSP00000261208.3:p.Val431=
ENST00000261208.7:c.1293C>G	ENSP00000261208.3:p.Val431=
ENST00000538703.5:c.1293C>G	ENSP00000440861.1:p.Val431=
ENST00000541929.5:c.669C>G	ENSP00000446364.1:p.Val223=
ENST00000544080.6:c.*722C>G	ENSP00000439385.2:n.*722C>G
ENST00000546999.5:c.*722C>G	ENSP00000447675.1:n.*722C>G
NM_001258333.1:c.669C>G	NP_001245262.1:p.Val223=
NM_001258334.1:c.1293C>G	NP_001245263.1:p.Val431=
NM_002108.3:c.1293C>G	NP_002099.1:p.Val431=
XM_011538249.1:c.441C>G	XP_011536551.1:p.Val147=
XM_011538249.2:c.441C>G	XP_011536551.1:p.Val147=
XM_017019246.1:c.363C>G	XP_016874735.1:p.Val121=
NM_002108.4:c.1293C>G MANE Select	NP_002099.1:p.Val431=
NM_001258334.2:c.1293C>G	NP_001245263.1:p.Val431=
NM_001258333.2:c.669C>G	NP_001245262.1:p.Val223=