Canonical Allele Identifier: CA393058694

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637835A>T (hg19) ; chr15:g.72345494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345494A>T , CM000677.2:g.72345494A>T	GRCh38
NC_000015.9:g.72637835A>T , CM000677.1:g.72637835A>T	GRCh37
NC_000015.8:g.70424889A>T	NCBI36
NG_009017.1:g.35686T>A
NG_009017.2:g.35686T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*138T>A	ENSP00000457521.2:n.*138T>A
ENST00000682061.1:c.*1824T>A	ENSP00000508316.1:n.*1824T>A
ENST00000682064.1:n.1705T>A
ENST00000682177.1:c.1521T>A	ENSP00000507409.1:n.1521T>A
ENST00000682235.1:n.1501T>A
ENST00000682461.1:c.1584T>A	ENSP00000507308.1:n.1584T>A
ENST00000682653.1:n.2482T>A
ENST00000682657.1:c.*1315T>A	ENSP00000507753.1:n.*1315T>A
ENST00000682721.1:c.*1281T>A	ENSP00000507535.1:n.*1281T>A
ENST00000682843.1:c.*1119T>A	ENSP00000508173.1:n.*1119T>A
ENST00000683003.1:c.*1315T>A	ENSP00000507576.1:n.*1315T>A
ENST00000683133.1:c.1662T>A	ENSP00000508108.1:n.1662T>A
ENST00000683243.1:c.*631T>A	ENSP00000507042.1:n.*631T>A
ENST00000683463.1:c.*967T>A	ENSP00000507986.1:n.*967T>A
ENST00000683548.1:n.1936T>A
ENST00000683579.1:c.*1376T>A	ENSP00000506867.1:n.*1376T>A
ENST00000683587.1:n.2009T>A
ENST00000683681.1:c.*156T>A	ENSP00000508110.1:n.*156T>A
ENST00000683735.1:c.*1876T>A	ENSP00000508336.1:n.*1876T>A
ENST00000683853.1:c.*283T>A	ENSP00000506834.1:n.*283T>A
ENST00000683860.1:c.*598T>A	ENSP00000507179.1:n.*598T>A
ENST00000683884.1:c.*805T>A	ENSP00000507004.1:n.*805T>A
ENST00000684041.1:c.*611T>A	ENSP00000508382.1:n.*611T>A
ENST00000684125.1:c.*138T>A	ENSP00000507320.1:n.*138T>A
ENST00000684203.1:n.3927T>A
ENST00000684231.1:c.*888T>A	ENSP00000507748.1:n.*888T>A
ENST00000684263.1:c.*1102T>A	ENSP00000508369.1:n.*1102T>A
ENST00000684305.1:c.1926T>A	ENSP00000506819.1:n.1926T>A
ENST00000684415.1:c.*1029T>A	ENSP00000507227.1:n.*1029T>A
ENST00000684520.1:c.*737T>A	ENSP00000506826.1:n.*737T>A
ENST00000684602.1:c.*1144T>A	ENSP00000507996.1:n.*1144T>A
ENST00000684667.1:c.1809T>A	ENSP00000507003.1:n.1809T>A
ENST00000268097.10:c.1478T>A MANE Select	ENSP00000268097.6:p.Leu493Gln
ENST00000268097.9:c.1478T>A	ENSP00000268097.5:p.Leu493Gln
ENST00000379915.4:c.560T>A	ENSP00000478716.1:p.Leu187Gln
ENST00000564677.5:n.270T>A
ENST00000565873.1:n.389T>A
ENST00000566304.5:c.1511T>A	ENSP00000455114.1:p.Leu504Gln
ENST00000567027.5:c.1093T>A
ENST00000567159.5:c.1478T>A	ENSP00000456489.1:p.Leu493Gln
ENST00000567411.5:c.*999T>A	ENSP00000455545.1:n.*999T>A
ENST00000568777.5:n.6698T>A
ENST00000569116.1:n.185T>A
NM_000520.4:c.1478T>A	NP_000511.2:p.Leu493Gln
NM_000520.5:c.1478T>A	NP_000511.2:p.Leu493Gln
NM_001318825.1:c.1511T>A	NP_001305754.1:p.Leu504Gln
NR_134869.1:n.1722T>A
NM_000520.6:c.1478T>A MANE Select	NP_000511.2:p.Leu493Gln
NM_001318825.2:c.1511T>A	NP_001305754.1:p.Leu504Gln
NR_134869.2:n.1263T>A
NR_134869.3:n.1263T>A