Canonical Allele Identifier: CA393059252

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638627G>T (hg19) ; chr15:g.72346286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346286G>T , CM000677.2:g.72346286G>T	GRCh38
NC_000015.9:g.72638627G>T , CM000677.1:g.72638627G>T	GRCh37
NC_000015.8:g.70425681G>T	NCBI36
NG_009017.1:g.34894C>A
NG_009017.2:g.34894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*30C>A	ENSP00000457521.2:n.*30C>A
ENST00000682061.1:c.*1032C>A	ENSP00000508316.1:n.*1032C>A
ENST00000682064.1:n.913C>A
ENST00000682177.1:c.1413C>A	ENSP00000507409.1:n.1413C>A
ENST00000682235.1:n.709C>A
ENST00000682461.1:c.1476C>A	ENSP00000507308.1:n.1476C>A
ENST00000682653.1:n.1690C>A
ENST00000682657.1:c.*523C>A	ENSP00000507753.1:n.*523C>A
ENST00000682721.1:c.*1173C>A	ENSP00000507535.1:n.*1173C>A
ENST00000682843.1:c.*1011C>A	ENSP00000508173.1:n.*1011C>A
ENST00000683003.1:c.*523C>A	ENSP00000507576.1:n.*523C>A
ENST00000683133.1:c.1554C>A	ENSP00000508108.1:n.1554C>A
ENST00000683243.1:c.*523C>A	ENSP00000507042.1:n.*523C>A
ENST00000683463.1:c.*175C>A	ENSP00000507986.1:n.*175C>A
ENST00000683548.1:n.1144C>A
ENST00000683579.1:c.*1268C>A	ENSP00000506867.1:n.*1268C>A
ENST00000683587.1:n.1217C>A
ENST00000683681.1:c.1370C>A	ENSP00000508110.1:p.Ala457Asp
ENST00000683735.1:c.*1084C>A	ENSP00000508336.1:n.*1084C>A
ENST00000683853.1:c.*175C>A	ENSP00000506834.1:n.*175C>A
ENST00000683860.1:c.1370C>A	ENSP00000507179.1:p.Ala457Asp
ENST00000683884.1:c.*13C>A	ENSP00000507004.1:n.*13C>A
ENST00000684041.1:c.1370C>A	ENSP00000508382.1:p.Ala457Asp
ENST00000684125.1:c.*30C>A	ENSP00000507320.1:n.*30C>A
ENST00000684203.1:n.3135C>A
ENST00000684231.1:c.*780C>A	ENSP00000507748.1:n.*780C>A
ENST00000684263.1:c.*310C>A	ENSP00000508369.1:n.*310C>A
ENST00000684305.1:c.1818C>A	ENSP00000506819.1:n.1818C>A
ENST00000684415.1:c.*237C>A	ENSP00000507227.1:n.*237C>A
ENST00000684520.1:c.1370C>A	ENSP00000506826.1:p.Ala457Asp
ENST00000684602.1:c.*1036C>A	ENSP00000507996.1:n.*1036C>A
ENST00000684667.1:c.1701C>A	ENSP00000507003.1:n.1701C>A
ENST00000268097.10:c.1370C>A MANE Select	ENSP00000268097.6:p.Ala457Asp
ENST00000268097.9:c.1370C>A	ENSP00000268097.5:p.Ala457Asp
ENST00000379915.4:c.452C>A	ENSP00000478716.1:p.Ala151Asp
ENST00000563762.5:c.865C>A	ENSP00000456346.1:n.865C>A
ENST00000566304.5:c.1403C>A	ENSP00000455114.1:p.Ala468Asp
ENST00000566672.5:c.*780C>A	ENSP00000457037.1:n.*780C>A
ENST00000567027.5:c.985C>A
ENST00000567159.5:c.1370C>A	ENSP00000456489.1:p.Ala457Asp
ENST00000567411.5:c.*891C>A	ENSP00000455545.1:n.*891C>A
ENST00000568777.5:n.6590C>A
ENST00000569410.5:c.*175C>A	ENSP00000457125.1:n.*175C>A
NM_000520.4:c.1370C>A	NP_000511.2:p.Ala457Asp
NM_000520.5:c.1370C>A	NP_000511.2:p.Ala457Asp
NM_001318825.1:c.1403C>A	NP_001305754.1:p.Ala468Asp
NR_134869.1:n.1614C>A
NM_000520.6:c.1370C>A MANE Select	NP_000511.2:p.Ala457Asp
NM_001318825.2:c.1403C>A	NP_001305754.1:p.Ala468Asp
NR_134869.2:n.1155C>A
NR_134869.3:n.1155C>A