Canonical Allele Identifier: CA393058729

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637845T>C (hg19) ; chr15:g.72345504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345504T>C , CM000677.2:g.72345504T>C	GRCh38
NC_000015.9:g.72637845T>C , CM000677.1:g.72637845T>C	GRCh37
NC_000015.8:g.70424899T>C	NCBI36
NG_009017.1:g.35676A>G
NG_009017.2:g.35676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*128A>G	ENSP00000457521.2:n.*128A>G
ENST00000682061.1:c.*1814A>G	ENSP00000508316.1:n.*1814A>G
ENST00000682064.1:n.1695A>G
ENST00000682177.1:c.1511A>G	ENSP00000507409.1:n.1511A>G
ENST00000682235.1:n.1491A>G
ENST00000682461.1:c.1574A>G	ENSP00000507308.1:n.1574A>G
ENST00000682653.1:n.2472A>G
ENST00000682657.1:c.*1305A>G	ENSP00000507753.1:n.*1305A>G
ENST00000682721.1:c.*1271A>G	ENSP00000507535.1:n.*1271A>G
ENST00000682843.1:c.*1109A>G	ENSP00000508173.1:n.*1109A>G
ENST00000683003.1:c.*1305A>G	ENSP00000507576.1:n.*1305A>G
ENST00000683133.1:c.1652A>G	ENSP00000508108.1:n.1652A>G
ENST00000683243.1:c.*621A>G	ENSP00000507042.1:n.*621A>G
ENST00000683463.1:c.*957A>G	ENSP00000507986.1:n.*957A>G
ENST00000683548.1:n.1926A>G
ENST00000683579.1:c.*1366A>G	ENSP00000506867.1:n.*1366A>G
ENST00000683587.1:n.1999A>G
ENST00000683681.1:c.*146A>G	ENSP00000508110.1:n.*146A>G
ENST00000683735.1:c.*1866A>G	ENSP00000508336.1:n.*1866A>G
ENST00000683853.1:c.*273A>G	ENSP00000506834.1:n.*273A>G
ENST00000683860.1:c.*588A>G	ENSP00000507179.1:n.*588A>G
ENST00000683884.1:c.*795A>G	ENSP00000507004.1:n.*795A>G
ENST00000684041.1:c.*601A>G	ENSP00000508382.1:n.*601A>G
ENST00000684125.1:c.*128A>G	ENSP00000507320.1:n.*128A>G
ENST00000684203.1:n.3917A>G
ENST00000684231.1:c.*878A>G	ENSP00000507748.1:n.*878A>G
ENST00000684263.1:c.*1092A>G	ENSP00000508369.1:n.*1092A>G
ENST00000684305.1:c.1916A>G	ENSP00000506819.1:n.1916A>G
ENST00000684415.1:c.*1019A>G	ENSP00000507227.1:n.*1019A>G
ENST00000684520.1:c.*727A>G	ENSP00000506826.1:n.*727A>G
ENST00000684602.1:c.*1134A>G	ENSP00000507996.1:n.*1134A>G
ENST00000684667.1:c.1799A>G	ENSP00000507003.1:n.1799A>G
ENST00000268097.10:c.1468A>G MANE Select	ENSP00000268097.6:p.Thr490Ala
ENST00000268097.9:c.1468A>G	ENSP00000268097.5:p.Thr490Ala
ENST00000379915.4:c.550A>G	ENSP00000478716.1:p.Thr184Ala
ENST00000564677.5:n.260A>G
ENST00000565873.1:n.379A>G
ENST00000566304.5:c.1501A>G	ENSP00000455114.1:p.Thr501Ala
ENST00000567027.5:c.1083A>G
ENST00000567159.5:c.1468A>G	ENSP00000456489.1:p.Thr490Ala
ENST00000567411.5:c.*989A>G	ENSP00000455545.1:n.*989A>G
ENST00000568777.5:n.6688A>G
ENST00000569116.1:n.175A>G
NM_000520.4:c.1468A>G	NP_000511.2:p.Thr490Ala
NM_000520.5:c.1468A>G	NP_000511.2:p.Thr490Ala
NM_001318825.1:c.1501A>G	NP_001305754.1:p.Thr501Ala
NR_134869.1:n.1712A>G
NM_000520.6:c.1468A>G MANE Select	NP_000511.2:p.Thr490Ala
NM_001318825.2:c.1501A>G	NP_001305754.1:p.Thr501Ala
NR_134869.2:n.1253A>G
NR_134869.3:n.1253A>G