Canonical Allele Identifier: CA491111363

Gene: HEXA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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