Canonical Allele Identifier: CA386089838

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384277G>C (hg19) ; chr12:g.95990499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990499G>C , CM000674.2:g.95990499G>C	GRCh38
NC_000012.11:g.96384277G>C , CM000674.1:g.96384277G>C	GRCh37
NC_000012.10:g.94908408G>C	NCBI36
NG_008180.1:g.10795C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.749C>G MANE Select	ENSP00000261208.3:p.Thr250Ser
ENST00000261208.7:c.749C>G	ENSP00000261208.3:p.Thr250Ser
ENST00000538703.5:c.749C>G	ENSP00000440861.1:p.Thr250Ser
ENST00000541929.5:c.125C>G	ENSP00000446364.1:p.Thr42Ser
ENST00000544080.6:c.*178C>G	ENSP00000439385.2:n.*178C>G
ENST00000546999.5:c.*178C>G	ENSP00000447675.1:n.*178C>G
ENST00000549376.1:n.142C>G
ENST00000551562.1:n.9C>G
ENST00000552509.5:c.713C>G	ENSP00000450372.1:p.Thr238Ser
NM_001258333.1:c.125C>G	NP_001245262.1:p.Thr42Ser
NM_001258334.1:c.749C>G	NP_001245263.1:p.Thr250Ser
NM_002108.3:c.749C>G	NP_002099.1:p.Thr250Ser
XM_011538249.1:c.3+2181C>G	XP_011536551.1:n.3+2181C>G
XM_011538249.2:c.3+2181C>G	XP_011536551.1:n.3+2181C>G
NM_002108.4:c.749C>G MANE Select	NP_002099.1:p.Thr250Ser
NM_001258334.2:c.749C>G	NP_001245263.1:p.Thr250Ser
NM_001258333.2:c.125C>G	NP_001245262.1:p.Thr42Ser