Canonical Allele Identifier: CA386089762

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384238A>G (hg19) ; chr12:g.95990460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990460A>G , CM000674.2:g.95990460A>G	GRCh38
NC_000012.11:g.96384238A>G , CM000674.1:g.96384238A>G	GRCh37
NC_000012.10:g.94908369A>G	NCBI36
NG_008180.1:g.10834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.788T>C MANE Select	ENSP00000261208.3:p.Leu263Pro
ENST00000261208.7:c.788T>C	ENSP00000261208.3:p.Leu263Pro
ENST00000538703.5:c.788T>C	ENSP00000440861.1:p.Leu263Pro
ENST00000541929.5:c.164T>C	ENSP00000446364.1:p.Leu55Pro
ENST00000544080.6:c.*217T>C	ENSP00000439385.2:n.*217T>C
ENST00000546999.5:c.*217T>C	ENSP00000447675.1:n.*217T>C
ENST00000549376.1:n.181T>C
ENST00000551562.1:n.48T>C
ENST00000552509.5:c.752T>C	ENSP00000450372.1:p.Leu251Pro
NM_001258333.1:c.164T>C	NP_001245262.1:p.Leu55Pro
NM_001258334.1:c.788T>C	NP_001245263.1:p.Leu263Pro
NM_002108.3:c.788T>C	NP_002099.1:p.Leu263Pro
XM_011538249.1:c.4-2220T>C	XP_011536551.1:n.4-2220T>C
XM_011538249.2:c.4-2220T>C	XP_011536551.1:n.4-2220T>C
NM_002108.4:c.788T>C MANE Select	NP_002099.1:p.Leu263Pro
NM_001258334.2:c.788T>C	NP_001245263.1:p.Leu263Pro
NM_001258333.2:c.164T>C	NP_001245262.1:p.Leu55Pro