Canonical Allele Identifier: CA393062548

Gene: HEXA

Linked Data

• COSMIC: COSM6001874
• MyVariant Identifiers: chr15:g.72641540G>T (hg19) ; chr15:g.72349199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349199G>T , CM000677.2:g.72349199G>T	GRCh38
NC_000015.9:g.72641540G>T , CM000677.1:g.72641540G>T	GRCh37
NC_000015.8:g.70428594G>T	NCBI36
NG_009017.1:g.31981C>A
NG_009017.2:g.31981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3212C>A
ENST00000567027.6:c.866C>A	ENSP00000457521.2:p.Pro289Gln
ENST00000682061.1:c.*528C>A	ENSP00000508316.1:n.*528C>A
ENST00000682177.1:c.909C>A	ENSP00000507409.1:n.909C>A
ENST00000682461.1:c.972C>A	ENSP00000507308.1:n.972C>A
ENST00000682653.1:n.897C>A
ENST00000682657.1:c.*276C>A	ENSP00000507753.1:n.*276C>A
ENST00000682721.1:c.*669C>A	ENSP00000507535.1:n.*669C>A
ENST00000682843.1:c.*764C>A	ENSP00000508173.1:n.*764C>A
ENST00000683003.1:c.*276C>A	ENSP00000507576.1:n.*276C>A
ENST00000683133.1:c.1050C>A	ENSP00000508108.1:n.1050C>A
ENST00000683228.1:n.897C>A
ENST00000683243.1:c.*276C>A	ENSP00000507042.1:n.*276C>A
ENST00000683463.1:c.866C>A	ENSP00000507986.1:p.Pro289Gln
ENST00000683548.1:n.897C>A
ENST00000683579.1:c.*764C>A	ENSP00000506867.1:n.*764C>A
ENST00000683587.1:n.897C>A
ENST00000683681.1:c.866C>A	ENSP00000508110.1:p.Pro289Gln
ENST00000683735.1:c.*764C>A	ENSP00000508336.1:n.*764C>A
ENST00000683742.1:n.697C>A
ENST00000683853.1:c.866C>A	ENSP00000506834.1:p.Pro289Gln
ENST00000683860.1:c.866C>A	ENSP00000507179.1:p.Pro289Gln
ENST00000683884.1:c.866C>A	ENSP00000507004.1:p.Pro289Gln
ENST00000684041.1:c.866C>A	ENSP00000508382.1:p.Pro289Gln
ENST00000684125.1:c.866C>A	ENSP00000507320.1:p.Pro289Gln
ENST00000684203.1:n.2704C>A
ENST00000684231.1:c.*276C>A	ENSP00000507748.1:n.*276C>A
ENST00000684263.1:c.866C>A	ENSP00000508369.1:p.Pro289Gln
ENST00000684305.1:c.1314C>A	ENSP00000506819.1:n.1314C>A
ENST00000684415.1:c.866C>A	ENSP00000507227.1:p.Pro289Gln
ENST00000684520.1:c.866C>A	ENSP00000506826.1:p.Pro289Gln
ENST00000684602.1:c.*532C>A	ENSP00000507996.1:n.*532C>A
ENST00000684667.1:c.1197C>A	ENSP00000507003.1:n.1197C>A
ENST00000268097.10:c.866C>A MANE Select	ENSP00000268097.6:p.Pro289Gln
ENST00000268097.9:c.866C>A	ENSP00000268097.5:p.Pro289Gln
ENST00000379915.4:c.413-2874C>A	ENSP00000478716.1:n.413-2874C>A
ENST00000563762.5:c.739-1065C>A	ENSP00000456346.1:n.739-1065C>A
ENST00000566304.5:c.899C>A	ENSP00000455114.1:p.Pro300Gln
ENST00000566672.5:c.*276C>A	ENSP00000457037.1:n.*276C>A
ENST00000567027.5:c.738C>A
ENST00000567159.5:c.866C>A	ENSP00000456489.1:p.Pro289Gln
ENST00000567411.5:c.*387C>A	ENSP00000455545.1:n.*387C>A
ENST00000568777.5:n.6270C>A
ENST00000569410.5:c.866C>A	ENSP00000457125.1:p.Pro289Gln
NM_000520.4:c.866C>A	NP_000511.2:p.Pro289Gln
NM_000520.5:c.866C>A	NP_000511.2:p.Pro289Gln
NM_001318825.1:c.899C>A	NP_001305754.1:p.Pro300Gln
NR_134869.1:n.1367C>A
NM_000520.6:c.866C>A MANE Select	NP_000511.2:p.Pro289Gln
NM_001318825.2:c.899C>A	NP_001305754.1:p.Pro300Gln
NR_134869.2:n.908C>A
NR_134869.3:n.908C>A