Canonical Allele Identifier: CA491111370

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637825G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345484G>T , CM000677.2:g.72345484G>T	GRCh38
NC_000015.9:g.72637825G>T , CM000677.1:g.72637825G>T	GRCh37
NC_000015.8:g.70424879G>T	NCBI36
NG_009017.1:g.35696C>A
NG_009017.2:g.35696C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*148C>A	ENSP00000457521.2:n.*148C>A
ENST00000682061.1:c.*1834C>A	ENSP00000508316.1:n.*1834C>A
ENST00000682064.1:n.1715C>A
ENST00000682177.1:c.1531C>A	ENSP00000507409.1:n.1531C>A
ENST00000682235.1:n.1511C>A
ENST00000682461.1:c.1594C>A	ENSP00000507308.1:n.1594C>A
ENST00000682653.1:n.2492C>A
ENST00000682657.1:c.*1325C>A	ENSP00000507753.1:n.*1325C>A
ENST00000682721.1:c.*1291C>A	ENSP00000507535.1:n.*1291C>A
ENST00000682843.1:c.*1129C>A	ENSP00000508173.1:n.*1129C>A
ENST00000683003.1:c.*1325C>A	ENSP00000507576.1:n.*1325C>A
ENST00000683133.1:c.1672C>A	ENSP00000508108.1:n.1672C>A
ENST00000683243.1:c.*641C>A	ENSP00000507042.1:n.*641C>A
ENST00000683463.1:c.*977C>A	ENSP00000507986.1:n.*977C>A
ENST00000683548.1:n.1946C>A
ENST00000683579.1:c.*1386C>A	ENSP00000506867.1:n.*1386C>A
ENST00000683587.1:n.2019C>A
ENST00000683681.1:c.*166C>A	ENSP00000508110.1:n.*166C>A
ENST00000683735.1:c.*1886C>A	ENSP00000508336.1:n.*1886C>A
ENST00000683853.1:c.*293C>A	ENSP00000506834.1:n.*293C>A
ENST00000683860.1:c.*608C>A	ENSP00000507179.1:n.*608C>A
ENST00000683884.1:c.*815C>A	ENSP00000507004.1:n.*815C>A
ENST00000684041.1:c.*621C>A	ENSP00000508382.1:n.*621C>A
ENST00000684125.1:c.*148C>A	ENSP00000507320.1:n.*148C>A
ENST00000684203.1:n.3937C>A
ENST00000684231.1:c.*898C>A	ENSP00000507748.1:n.*898C>A
ENST00000684263.1:c.*1112C>A	ENSP00000508369.1:n.*1112C>A
ENST00000684305.1:c.1936C>A	ENSP00000506819.1:n.1936C>A
ENST00000684415.1:c.*1039C>A	ENSP00000507227.1:n.*1039C>A
ENST00000684520.1:c.*747C>A	ENSP00000506826.1:n.*747C>A
ENST00000684602.1:c.*1154C>A	ENSP00000507996.1:n.*1154C>A
ENST00000684667.1:c.1819C>A	ENSP00000507003.1:n.1819C>A
ENST00000268097.10:c.1488C>A MANE Select	ENSP00000268097.6:p.Ala496=
ENST00000268097.9:c.1488C>A	ENSP00000268097.5:p.Ala496=
ENST00000379915.4:c.570C>A	ENSP00000478716.1:p.Ala190=
ENST00000564677.5:n.280C>A
ENST00000565873.1:n.399C>A
ENST00000566304.5:c.1521C>A	ENSP00000455114.1:p.Ala507=
ENST00000567027.5:c.1103C>A
ENST00000567159.5:c.1488C>A	ENSP00000456489.1:p.Ala496=
ENST00000567411.5:c.*1009C>A	ENSP00000455545.1:n.*1009C>A
ENST00000568777.5:n.6708C>A
ENST00000569116.1:n.195C>A
NM_000520.4:c.1488C>A	NP_000511.2:p.Ala496=
NM_000520.5:c.1488C>A	NP_000511.2:p.Ala496=
NM_001318825.1:c.1521C>A	NP_001305754.1:p.Ala507=
NR_134869.1:n.1732C>A
NM_000520.6:c.1488C>A MANE Select	NP_000511.2:p.Ala496=
NM_001318825.2:c.1521C>A	NP_001305754.1:p.Ala507=
NR_134869.2:n.1273C>A
NR_134869.3:n.1273C>A