Canonical Allele Identifier: CA491111468

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1773339
• ClinVar RCV Id: RCV002396913 ; RCV003095202
• MyVariant Identifiers: chr15:g.72637843T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345502T>C , CM000677.2:g.72345502T>C	GRCh38
NC_000015.9:g.72637843T>C , CM000677.1:g.72637843T>C	GRCh37
NC_000015.8:g.70424897T>C	NCBI36
NG_009017.1:g.35678A>G
NG_009017.2:g.35678A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*130A>G	ENSP00000457521.2:n.*130A>G
ENST00000682061.1:c.*1816A>G	ENSP00000508316.1:n.*1816A>G
ENST00000682064.1:n.1697A>G
ENST00000682177.1:c.1513A>G	ENSP00000507409.1:n.1513A>G
ENST00000682235.1:n.1493A>G
ENST00000682461.1:c.1576A>G	ENSP00000507308.1:n.1576A>G
ENST00000682653.1:n.2474A>G
ENST00000682657.1:c.*1307A>G	ENSP00000507753.1:n.*1307A>G
ENST00000682721.1:c.*1273A>G	ENSP00000507535.1:n.*1273A>G
ENST00000682843.1:c.*1111A>G	ENSP00000508173.1:n.*1111A>G
ENST00000683003.1:c.*1307A>G	ENSP00000507576.1:n.*1307A>G
ENST00000683133.1:c.1654A>G	ENSP00000508108.1:n.1654A>G
ENST00000683243.1:c.*623A>G	ENSP00000507042.1:n.*623A>G
ENST00000683463.1:c.*959A>G	ENSP00000507986.1:n.*959A>G
ENST00000683548.1:n.1928A>G
ENST00000683579.1:c.*1368A>G	ENSP00000506867.1:n.*1368A>G
ENST00000683587.1:n.2001A>G
ENST00000683681.1:c.*148A>G	ENSP00000508110.1:n.*148A>G
ENST00000683735.1:c.*1868A>G	ENSP00000508336.1:n.*1868A>G
ENST00000683853.1:c.*275A>G	ENSP00000506834.1:n.*275A>G
ENST00000683860.1:c.*590A>G	ENSP00000507179.1:n.*590A>G
ENST00000683884.1:c.*797A>G	ENSP00000507004.1:n.*797A>G
ENST00000684041.1:c.*603A>G	ENSP00000508382.1:n.*603A>G
ENST00000684125.1:c.*130A>G	ENSP00000507320.1:n.*130A>G
ENST00000684203.1:n.3919A>G
ENST00000684231.1:c.*880A>G	ENSP00000507748.1:n.*880A>G
ENST00000684263.1:c.*1094A>G	ENSP00000508369.1:n.*1094A>G
ENST00000684305.1:c.1918A>G	ENSP00000506819.1:n.1918A>G
ENST00000684415.1:c.*1021A>G	ENSP00000507227.1:n.*1021A>G
ENST00000684520.1:c.*729A>G	ENSP00000506826.1:n.*729A>G
ENST00000684602.1:c.*1136A>G	ENSP00000507996.1:n.*1136A>G
ENST00000684667.1:c.1801A>G	ENSP00000507003.1:n.1801A>G
ENST00000268097.10:c.1470A>G MANE Select	ENSP00000268097.6:p.Thr490=
ENST00000268097.9:c.1470A>G	ENSP00000268097.5:p.Thr490=
ENST00000379915.4:c.552A>G	ENSP00000478716.1:p.Thr184=
ENST00000564677.5:n.262A>G
ENST00000565873.1:n.381A>G
ENST00000566304.5:c.1503A>G	ENSP00000455114.1:p.Thr501=
ENST00000567027.5:c.1085A>G
ENST00000567159.5:c.1470A>G	ENSP00000456489.1:p.Thr490=
ENST00000567411.5:c.*991A>G	ENSP00000455545.1:n.*991A>G
ENST00000568777.5:n.6690A>G
ENST00000569116.1:n.177A>G
NM_000520.4:c.1470A>G	NP_000511.2:p.Thr490=
NM_000520.5:c.1470A>G	NP_000511.2:p.Thr490=
NM_001318825.1:c.1503A>G	NP_001305754.1:p.Thr501=
NR_134869.1:n.1714A>G
NM_000520.6:c.1470A>G MANE Select	NP_000511.2:p.Thr490=
NM_001318825.2:c.1503A>G	NP_001305754.1:p.Thr501=
NR_134869.2:n.1255A>G
NR_134869.3:n.1255A>G