Canonical Allele Identifier: CA393059233

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638623A>T (hg19) ; chr15:g.72346282A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346282A>T , CM000677.2:g.72346282A>T	GRCh38
NC_000015.9:g.72638623A>T , CM000677.1:g.72638623A>T	GRCh37
NC_000015.8:g.70425677A>T	NCBI36
NG_009017.1:g.34898T>A
NG_009017.2:g.34898T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*34T>A	ENSP00000457521.2:n.*34T>A
ENST00000682061.1:c.*1036T>A	ENSP00000508316.1:n.*1036T>A
ENST00000682064.1:n.917T>A
ENST00000682177.1:c.1417T>A	ENSP00000507409.1:n.1417T>A
ENST00000682235.1:n.713T>A
ENST00000682461.1:c.1480T>A	ENSP00000507308.1:n.1480T>A
ENST00000682653.1:n.1694T>A
ENST00000682657.1:c.*527T>A	ENSP00000507753.1:n.*527T>A
ENST00000682721.1:c.*1177T>A	ENSP00000507535.1:n.*1177T>A
ENST00000682843.1:c.*1015T>A	ENSP00000508173.1:n.*1015T>A
ENST00000683003.1:c.*527T>A	ENSP00000507576.1:n.*527T>A
ENST00000683133.1:c.1558T>A	ENSP00000508108.1:n.1558T>A
ENST00000683243.1:c.*527T>A	ENSP00000507042.1:n.*527T>A
ENST00000683463.1:c.*179T>A	ENSP00000507986.1:n.*179T>A
ENST00000683548.1:n.1148T>A
ENST00000683579.1:c.*1272T>A	ENSP00000506867.1:n.*1272T>A
ENST00000683587.1:n.1221T>A
ENST00000683681.1:c.1374T>A	ENSP00000508110.1:p.Cys458Ter
ENST00000683735.1:c.*1088T>A	ENSP00000508336.1:n.*1088T>A
ENST00000683853.1:c.*179T>A	ENSP00000506834.1:n.*179T>A
ENST00000683860.1:c.1374T>A	ENSP00000507179.1:p.Cys458Ter
ENST00000683884.1:c.*17T>A	ENSP00000507004.1:n.*17T>A
ENST00000684041.1:c.1374T>A	ENSP00000508382.1:p.Cys458Ter
ENST00000684125.1:c.*34T>A	ENSP00000507320.1:n.*34T>A
ENST00000684203.1:n.3139T>A
ENST00000684231.1:c.*784T>A	ENSP00000507748.1:n.*784T>A
ENST00000684263.1:c.*314T>A	ENSP00000508369.1:n.*314T>A
ENST00000684305.1:c.1822T>A	ENSP00000506819.1:n.1822T>A
ENST00000684415.1:c.*241T>A	ENSP00000507227.1:n.*241T>A
ENST00000684520.1:c.1374T>A	ENSP00000506826.1:p.Cys458Ter
ENST00000684602.1:c.*1040T>A	ENSP00000507996.1:n.*1040T>A
ENST00000684667.1:c.1705T>A	ENSP00000507003.1:n.1705T>A
ENST00000268097.10:c.1374T>A MANE Select	ENSP00000268097.6:p.Cys458Ter
ENST00000268097.9:c.1374T>A	ENSP00000268097.5:p.Cys458Ter
ENST00000379915.4:c.456T>A	ENSP00000478716.1:p.Cys152Ter
ENST00000563762.5:c.869T>A	ENSP00000456346.1:n.869T>A
ENST00000566304.5:c.1407T>A	ENSP00000455114.1:p.Cys469Ter
ENST00000566672.5:c.*784T>A	ENSP00000457037.1:n.*784T>A
ENST00000567027.5:c.989T>A
ENST00000567159.5:c.1374T>A	ENSP00000456489.1:p.Cys458Ter
ENST00000567411.5:c.*895T>A	ENSP00000455545.1:n.*895T>A
ENST00000568777.5:n.6594T>A
ENST00000569410.5:c.*179T>A	ENSP00000457125.1:n.*179T>A
NM_000520.4:c.1374T>A	NP_000511.2:p.Cys458Ter
NM_000520.5:c.1374T>A	NP_000511.2:p.Cys458Ter
NM_001318825.1:c.1407T>A	NP_001305754.1:p.Cys469Ter
NR_134869.1:n.1618T>A
NM_000520.6:c.1374T>A MANE Select	NP_000511.2:p.Cys458Ter
NM_001318825.2:c.1407T>A	NP_001305754.1:p.Cys469Ter
NR_134869.2:n.1159T>A
NR_134869.3:n.1159T>A