Canonical Allele Identifier: CA386089689

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384204C>G (hg19) ; chr12:g.95990426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990426C>G , CM000674.2:g.95990426C>G	GRCh38
NC_000012.11:g.96384204C>G , CM000674.1:g.96384204C>G	GRCh37
NC_000012.10:g.94908335C>G	NCBI36
NG_008180.1:g.10868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.822G>C MANE Select	ENSP00000261208.3:p.Trp274Cys
ENST00000261208.7:c.822G>C	ENSP00000261208.3:p.Trp274Cys
ENST00000538703.5:c.822G>C	ENSP00000440861.1:p.Trp274Cys
ENST00000541929.5:c.198G>C	ENSP00000446364.1:p.Trp66Cys
ENST00000544080.6:c.*251G>C	ENSP00000439385.2:n.*251G>C
ENST00000546999.5:c.*251G>C	ENSP00000447675.1:n.*251G>C
ENST00000549376.1:n.215G>C
ENST00000551562.1:n.82G>C
ENST00000552509.5:c.786G>C	ENSP00000450372.1:p.Trp262Cys
NM_001258333.1:c.198G>C	NP_001245262.1:p.Trp66Cys
NM_001258334.1:c.822G>C	NP_001245263.1:p.Trp274Cys
NM_002108.3:c.822G>C	NP_002099.1:p.Trp274Cys
XM_011538249.1:c.4-2186G>C	XP_011536551.1:n.4-2186G>C
XM_011538249.2:c.4-2186G>C	XP_011536551.1:n.4-2186G>C
NM_002108.4:c.822G>C MANE Select	NP_002099.1:p.Trp274Cys
NM_001258334.2:c.822G>C	NP_001245263.1:p.Trp274Cys
NM_001258333.2:c.198G>C	NP_001245262.1:p.Trp66Cys