Canonical Allele Identifier: CA386089884

Gene: HAL

Linked Data

• MyVariant Identifiers: chr12:g.96384298G>A (hg19) ; chr12:g.95990520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990520G>A , CM000674.2:g.95990520G>A	GRCh38
NC_000012.11:g.96384298G>A , CM000674.1:g.96384298G>A	GRCh37
NC_000012.10:g.94908429G>A	NCBI36
NG_008180.1:g.10774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.728C>T MANE Select	ENSP00000261208.3:p.Pro243Leu
ENST00000261208.7:c.728C>T	ENSP00000261208.3:p.Pro243Leu
ENST00000538703.5:c.728C>T	ENSP00000440861.1:p.Pro243Leu
ENST00000541929.5:c.104C>T	ENSP00000446364.1:p.Pro35Leu
ENST00000544080.6:c.*157C>T	ENSP00000439385.2:n.*157C>T
ENST00000546579.1:c.458C>T	ENSP00000447543.1:p.Pro153Leu
ENST00000546999.5:c.*157C>T	ENSP00000447675.1:n.*157C>T
ENST00000549376.1:n.121C>T
ENST00000552509.5:c.692C>T	ENSP00000450372.1:p.Pro231Leu
NM_001258333.1:c.104C>T	NP_001245262.1:p.Pro35Leu
NM_001258334.1:c.728C>T	NP_001245263.1:p.Pro243Leu
NM_002108.3:c.728C>T	NP_002099.1:p.Pro243Leu
XM_011538249.1:c.3+2160C>T	XP_011536551.1:n.3+2160C>T
XM_011538249.2:c.3+2160C>T	XP_011536551.1:n.3+2160C>T
NM_002108.4:c.728C>T MANE Select	NP_002099.1:p.Pro243Leu
NM_001258334.2:c.728C>T	NP_001245263.1:p.Pro243Leu
NM_001258333.2:c.104C>T	NP_001245262.1:p.Pro35Leu