Canonical Allele Identifier: CA386089817

Gene: HAL

Linked Data

• gnomAD v4: 12-95990487-C-G
• MyVariant Identifiers: chr12:g.96384265C>G (hg19) ; chr12:g.95990487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990487C>G , CM000674.2:g.95990487C>G	GRCh38
NC_000012.11:g.96384265C>G , CM000674.1:g.96384265C>G	GRCh37
NC_000012.10:g.94908396C>G	NCBI36
NG_008180.1:g.10807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.761G>C MANE Select	ENSP00000261208.3:p.Ser254Thr
ENST00000261208.7:c.761G>C	ENSP00000261208.3:p.Ser254Thr
ENST00000538703.5:c.761G>C	ENSP00000440861.1:p.Ser254Thr
ENST00000541929.5:c.137G>C	ENSP00000446364.1:p.Ser46Thr
ENST00000544080.6:c.*190G>C	ENSP00000439385.2:n.*190G>C
ENST00000546999.5:c.*190G>C	ENSP00000447675.1:n.*190G>C
ENST00000549376.1:n.154G>C
ENST00000551562.1:n.21G>C
ENST00000552509.5:c.725G>C	ENSP00000450372.1:p.Ser242Thr
NM_001258333.1:c.137G>C	NP_001245262.1:p.Ser46Thr
NM_001258334.1:c.761G>C	NP_001245263.1:p.Ser254Thr
NM_002108.3:c.761G>C	NP_002099.1:p.Ser254Thr
XM_011538249.1:c.3+2193G>C	XP_011536551.1:n.3+2193G>C
XM_011538249.2:c.3+2193G>C	XP_011536551.1:n.3+2193G>C
NM_002108.4:c.761G>C MANE Select	NP_002099.1:p.Ser254Thr
NM_001258334.2:c.761G>C	NP_001245263.1:p.Ser254Thr
NM_001258333.2:c.137G>C	NP_001245262.1:p.Ser46Thr