Canonical Allele Identifier: CA481434814

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384189G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990411G>C , CM000674.2:g.95990411G>C	GRCh38
NC_000012.11:g.96384189G>C , CM000674.1:g.96384189G>C	GRCh37
NC_000012.10:g.94908320G>C	NCBI36
NG_008180.1:g.10883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.837C>G MANE Select	ENSP00000261208.3:p.Gly279=
ENST00000261208.7:c.837C>G	ENSP00000261208.3:p.Gly279=
ENST00000538703.5:c.837C>G	ENSP00000440861.1:p.Gly279=
ENST00000541929.5:c.213C>G	ENSP00000446364.1:p.Gly71=
ENST00000544080.6:c.*266C>G	ENSP00000439385.2:n.*266C>G
ENST00000546999.5:c.*266C>G	ENSP00000447675.1:n.*266C>G
ENST00000549376.1:n.230C>G
ENST00000551562.1:n.97C>G
ENST00000552509.5:c.801C>G	ENSP00000450372.1:p.Gly267=
NM_001258333.1:c.213C>G	NP_001245262.1:p.Gly71=
NM_001258334.1:c.837C>G	NP_001245263.1:p.Gly279=
NM_002108.3:c.837C>G	NP_002099.1:p.Gly279=
XM_011538249.1:c.4-2171C>G	XP_011536551.1:n.4-2171C>G
XM_011538249.2:c.4-2171C>G	XP_011536551.1:n.4-2171C>G
NM_002108.4:c.837C>G MANE Select	NP_002099.1:p.Gly279=
NM_001258334.2:c.837C>G	NP_001245263.1:p.Gly279=
NM_001258333.2:c.213C>G	NP_001245262.1:p.Gly71=