Canonical Allele Identifier: CA386089780

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384247A>G (hg19) ; chr12:g.95990469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990469A>G , CM000674.2:g.95990469A>G	GRCh38
NC_000012.11:g.96384247A>G , CM000674.1:g.96384247A>G	GRCh37
NC_000012.10:g.94908378A>G	NCBI36
NG_008180.1:g.10825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.779T>C MANE Select	ENSP00000261208.3:p.Leu260Pro
ENST00000261208.7:c.779T>C	ENSP00000261208.3:p.Leu260Pro
ENST00000538703.5:c.779T>C	ENSP00000440861.1:p.Leu260Pro
ENST00000541929.5:c.155T>C	ENSP00000446364.1:p.Leu52Pro
ENST00000544080.6:c.*208T>C	ENSP00000439385.2:n.*208T>C
ENST00000546999.5:c.*208T>C	ENSP00000447675.1:n.*208T>C
ENST00000549376.1:n.172T>C
ENST00000551562.1:n.39T>C
ENST00000552509.5:c.743T>C	ENSP00000450372.1:p.Leu248Pro
NM_001258333.1:c.155T>C	NP_001245262.1:p.Leu52Pro
NM_001258334.1:c.779T>C	NP_001245263.1:p.Leu260Pro
NM_002108.3:c.779T>C	NP_002099.1:p.Leu260Pro
XM_011538249.1:c.3+2211T>C	XP_011536551.1:n.3+2211T>C
XM_011538249.2:c.3+2211T>C	XP_011536551.1:n.3+2211T>C
NM_002108.4:c.779T>C MANE Select	NP_002099.1:p.Leu260Pro
NM_001258334.2:c.779T>C	NP_001245263.1:p.Leu260Pro
NM_001258333.2:c.155T>C	NP_001245262.1:p.Leu52Pro