Canonical Allele Identifier: CA393061969

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640453C>A (hg19) ; chr15:g.72348112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348112C>A , CM000677.2:g.72348112C>A	GRCh38
NC_000015.9:g.72640453C>A , CM000677.1:g.72640453C>A	GRCh37
NC_000015.8:g.70427507C>A	NCBI36
NG_009017.1:g.33068G>T
NG_009017.2:g.33068G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3355G>T
ENST00000567027.6:c.1009G>T	ENSP00000457521.2:p.Asp337Tyr
ENST00000682061.1:c.*671G>T	ENSP00000508316.1:n.*671G>T
ENST00000682177.1:c.1052G>T	ENSP00000507409.1:n.1052G>T
ENST00000682461.1:c.1115G>T	ENSP00000507308.1:n.1115G>T
ENST00000682653.1:n.1040G>T
ENST00000682657.1:c.*419G>T	ENSP00000507753.1:n.*419G>T
ENST00000682721.1:c.*812G>T	ENSP00000507535.1:n.*812G>T
ENST00000682843.1:c.*907G>T	ENSP00000508173.1:n.*907G>T
ENST00000683003.1:c.*419G>T	ENSP00000507576.1:n.*419G>T
ENST00000683133.1:c.1193G>T	ENSP00000508108.1:n.1193G>T
ENST00000683228.1:n.1040G>T
ENST00000683243.1:c.*419G>T	ENSP00000507042.1:n.*419G>T
ENST00000683463.1:c.1009G>T	ENSP00000507986.1:p.Asp337Tyr
ENST00000683548.1:n.1040G>T
ENST00000683579.1:c.*907G>T	ENSP00000506867.1:n.*907G>T
ENST00000683587.1:n.1040G>T
ENST00000683681.1:c.1009G>T	ENSP00000508110.1:p.Asp337Tyr
ENST00000683735.1:c.*907G>T	ENSP00000508336.1:n.*907G>T
ENST00000683742.1:n.840G>T
ENST00000683853.1:c.1009G>T	ENSP00000506834.1:p.Asp337Tyr
ENST00000683860.1:c.1009G>T	ENSP00000507179.1:p.Asp337Tyr
ENST00000683884.1:c.1009G>T	ENSP00000507004.1:p.Asp337Tyr
ENST00000684041.1:c.1009G>T	ENSP00000508382.1:p.Asp337Tyr
ENST00000684125.1:c.1009G>T	ENSP00000507320.1:p.Asp337Tyr
ENST00000684203.1:n.2847G>T
ENST00000684231.1:c.*419G>T	ENSP00000507748.1:n.*419G>T
ENST00000684263.1:c.1009G>T	ENSP00000508369.1:p.Asp337Tyr
ENST00000684305.1:c.1457G>T	ENSP00000506819.1:n.1457G>T
ENST00000684415.1:c.1009G>T	ENSP00000507227.1:p.Asp337Tyr
ENST00000684520.1:c.1009G>T	ENSP00000506826.1:p.Asp337Tyr
ENST00000684602.1:c.*675G>T	ENSP00000507996.1:n.*675G>T
ENST00000684667.1:c.1340G>T	ENSP00000507003.1:n.1340G>T
ENST00000268097.10:c.1009G>T MANE Select	ENSP00000268097.6:p.Asp337Tyr
ENST00000268097.9:c.1009G>T	ENSP00000268097.5:p.Asp337Tyr
ENST00000379915.4:c.413-1787G>T	ENSP00000478716.1:n.413-1787G>T
ENST00000563762.5:c.761G>T	ENSP00000456346.1:n.761G>T
ENST00000566304.5:c.1042G>T	ENSP00000455114.1:p.Asp348Tyr
ENST00000566672.5:c.*419G>T	ENSP00000457037.1:n.*419G>T
ENST00000567027.5:c.881G>T
ENST00000567159.5:c.1009G>T	ENSP00000456489.1:p.Asp337Tyr
ENST00000567411.5:c.*530G>T	ENSP00000455545.1:n.*530G>T
ENST00000568777.5:n.6413G>T
ENST00000569410.5:c.1009G>T	ENSP00000457125.1:p.Asp337Tyr
NM_000520.4:c.1009G>T	NP_000511.2:p.Asp337Tyr
NM_000520.5:c.1009G>T	NP_000511.2:p.Asp337Tyr
NM_001318825.1:c.1042G>T	NP_001305754.1:p.Asp348Tyr
NR_134869.1:n.1510G>T
NM_000520.6:c.1009G>T MANE Select	NP_000511.2:p.Asp337Tyr
NM_001318825.2:c.1042G>T	NP_001305754.1:p.Asp348Tyr
NR_134869.2:n.1051G>T
NR_134869.3:n.1051G>T