Canonical Allele Identifier: CA393058519

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637804G>T (hg19) ; chr15:g.72345463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345463G>T , CM000677.2:g.72345463G>T	GRCh38
NC_000015.9:g.72637804G>T , CM000677.1:g.72637804G>T	GRCh37
NC_000015.8:g.70424858G>T	NCBI36
NG_009017.1:g.35717C>A
NG_009017.2:g.35717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*169C>A	ENSP00000457521.2:n.*169C>A
ENST00000682061.1:c.*1855C>A	ENSP00000508316.1:n.*1855C>A
ENST00000682064.1:n.1736C>A
ENST00000682177.1:c.1552C>A	ENSP00000507409.1:n.1552C>A
ENST00000682235.1:n.1532C>A
ENST00000682461.1:c.1615C>A	ENSP00000507308.1:n.1615C>A
ENST00000682653.1:n.2513C>A
ENST00000682657.1:c.*1346C>A	ENSP00000507753.1:n.*1346C>A
ENST00000682721.1:c.*1312C>A	ENSP00000507535.1:n.*1312C>A
ENST00000682843.1:c.*1150C>A	ENSP00000508173.1:n.*1150C>A
ENST00000683003.1:c.*1346C>A	ENSP00000507576.1:n.*1346C>A
ENST00000683133.1:c.1693C>A	ENSP00000508108.1:n.1693C>A
ENST00000683243.1:c.*662C>A	ENSP00000507042.1:n.*662C>A
ENST00000683463.1:c.*998C>A	ENSP00000507986.1:n.*998C>A
ENST00000683548.1:n.1967C>A
ENST00000683579.1:c.*1407C>A	ENSP00000506867.1:n.*1407C>A
ENST00000683587.1:n.2040C>A
ENST00000683681.1:c.*187C>A	ENSP00000508110.1:n.*187C>A
ENST00000683735.1:c.*1907C>A	ENSP00000508336.1:n.*1907C>A
ENST00000683853.1:c.*314C>A	ENSP00000506834.1:n.*314C>A
ENST00000683860.1:c.*629C>A	ENSP00000507179.1:n.*629C>A
ENST00000683884.1:c.*836C>A	ENSP00000507004.1:n.*836C>A
ENST00000684125.1:c.*169C>A	ENSP00000507320.1:n.*169C>A
ENST00000684203.1:n.3958C>A
ENST00000684231.1:c.*919C>A	ENSP00000507748.1:n.*919C>A
ENST00000684263.1:c.*1133C>A	ENSP00000508369.1:n.*1133C>A
ENST00000684305.1:c.1957C>A	ENSP00000506819.1:n.1957C>A
ENST00000684415.1:c.*1060C>A	ENSP00000507227.1:n.*1060C>A
ENST00000684520.1:c.*768C>A	ENSP00000506826.1:n.*768C>A
ENST00000684602.1:c.*1175C>A	ENSP00000507996.1:n.*1175C>A
ENST00000684667.1:c.1840C>A	ENSP00000507003.1:n.1840C>A
ENST00000268097.10:c.1509C>A MANE Select	ENSP00000268097.6:p.Phe503Leu
ENST00000268097.9:c.1509C>A	ENSP00000268097.5:p.Phe503Leu
ENST00000379915.4:c.591C>A	ENSP00000478716.1:p.Phe197Leu
ENST00000564677.5:n.301C>A
ENST00000565873.1:n.420C>A
ENST00000566304.5:c.1542C>A	ENSP00000455114.1:p.Phe514Leu
ENST00000567027.5:c.1124C>A
ENST00000567159.5:c.1509C>A	ENSP00000456489.1:p.Phe503Leu
ENST00000567411.5:c.*1030C>A	ENSP00000455545.1:n.*1030C>A
ENST00000568777.5:n.6729C>A
ENST00000569116.1:n.216C>A
NM_000520.4:c.1509C>A	NP_000511.2:p.Phe503Leu
NM_000520.5:c.1509C>A	NP_000511.2:p.Phe503Leu
NM_001318825.1:c.1542C>A	NP_001305754.1:p.Phe514Leu
NR_134869.1:n.1753C>A
NM_000520.6:c.1509C>A MANE Select	NP_000511.2:p.Phe503Leu
NM_001318825.2:c.1542C>A	NP_001305754.1:p.Phe514Leu
NR_134869.2:n.1294C>A
NR_134869.3:n.1294C>A