Canonical Allele Identifier: CA393058685

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345492-T-A
• MyVariant Identifiers: chr15:g.72637833T>A (hg19) ; chr15:g.72345492T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345492T>A , CM000677.2:g.72345492T>A	GRCh38
NC_000015.9:g.72637833T>A , CM000677.1:g.72637833T>A	GRCh37
NC_000015.8:g.70424887T>A	NCBI36
NG_009017.1:g.35688A>T
NG_009017.2:g.35688A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*140A>T	ENSP00000457521.2:n.*140A>T
ENST00000682061.1:c.*1826A>T	ENSP00000508316.1:n.*1826A>T
ENST00000682064.1:n.1707A>T
ENST00000682177.1:c.1523A>T	ENSP00000507409.1:n.1523A>T
ENST00000682235.1:n.1503A>T
ENST00000682461.1:c.1586A>T	ENSP00000507308.1:n.1586A>T
ENST00000682653.1:n.2484A>T
ENST00000682657.1:c.*1317A>T	ENSP00000507753.1:n.*1317A>T
ENST00000682721.1:c.*1283A>T	ENSP00000507535.1:n.*1283A>T
ENST00000682843.1:c.*1121A>T	ENSP00000508173.1:n.*1121A>T
ENST00000683003.1:c.*1317A>T	ENSP00000507576.1:n.*1317A>T
ENST00000683133.1:c.1664A>T	ENSP00000508108.1:n.1664A>T
ENST00000683243.1:c.*633A>T	ENSP00000507042.1:n.*633A>T
ENST00000683463.1:c.*969A>T	ENSP00000507986.1:n.*969A>T
ENST00000683548.1:n.1938A>T
ENST00000683579.1:c.*1378A>T	ENSP00000506867.1:n.*1378A>T
ENST00000683587.1:n.2011A>T
ENST00000683681.1:c.*158A>T	ENSP00000508110.1:n.*158A>T
ENST00000683735.1:c.*1878A>T	ENSP00000508336.1:n.*1878A>T
ENST00000683853.1:c.*285A>T	ENSP00000506834.1:n.*285A>T
ENST00000683860.1:c.*600A>T	ENSP00000507179.1:n.*600A>T
ENST00000683884.1:c.*807A>T	ENSP00000507004.1:n.*807A>T
ENST00000684041.1:c.*613A>T	ENSP00000508382.1:n.*613A>T
ENST00000684125.1:c.*140A>T	ENSP00000507320.1:n.*140A>T
ENST00000684203.1:n.3929A>T
ENST00000684231.1:c.*890A>T	ENSP00000507748.1:n.*890A>T
ENST00000684263.1:c.*1104A>T	ENSP00000508369.1:n.*1104A>T
ENST00000684305.1:c.1928A>T	ENSP00000506819.1:n.1928A>T
ENST00000684415.1:c.*1031A>T	ENSP00000507227.1:n.*1031A>T
ENST00000684520.1:c.*739A>T	ENSP00000506826.1:n.*739A>T
ENST00000684602.1:c.*1146A>T	ENSP00000507996.1:n.*1146A>T
ENST00000684667.1:c.1811A>T	ENSP00000507003.1:n.1811A>T
ENST00000268097.10:c.1480A>T MANE Select	ENSP00000268097.6:p.Thr494Ser
ENST00000268097.9:c.1480A>T	ENSP00000268097.5:p.Thr494Ser
ENST00000379915.4:c.562A>T	ENSP00000478716.1:p.Thr188Ser
ENST00000564677.5:n.272A>T
ENST00000565873.1:n.391A>T
ENST00000566304.5:c.1513A>T	ENSP00000455114.1:p.Thr505Ser
ENST00000567027.5:c.1095A>T
ENST00000567159.5:c.1480A>T	ENSP00000456489.1:p.Thr494Ser
ENST00000567411.5:c.*1001A>T	ENSP00000455545.1:n.*1001A>T
ENST00000568777.5:n.6700A>T
ENST00000569116.1:n.187A>T
NM_000520.4:c.1480A>T	NP_000511.2:p.Thr494Ser
NM_000520.5:c.1480A>T	NP_000511.2:p.Thr494Ser
NM_001318825.1:c.1513A>T	NP_001305754.1:p.Thr505Ser
NR_134869.1:n.1724A>T
NM_000520.6:c.1480A>T MANE Select	NP_000511.2:p.Thr494Ser
NM_001318825.2:c.1513A>T	NP_001305754.1:p.Thr505Ser
NR_134869.2:n.1265A>T
NR_134869.3:n.1265A>T