Canonical Allele Identifier: CA2804700340

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345356A>G , CM000677.2:g.72345356A>G	GRCh38
NC_000015.9:g.72637697A>G , CM000677.1:g.72637697A>G	GRCh37
NC_000015.8:g.70424751A>G	NCBI36
NG_009017.1:g.35824T>C
NG_009017.2:g.35824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*276T>C	ENSP00000457521.2:n.*276T>C
ENST00000682061.1:c.*1962T>C	ENSP00000508316.1:n.*1962T>C
ENST00000682064.1:n.1753+90T>C
ENST00000682177.1:c.1659T>C	ENSP00000507409.1:n.1659T>C
ENST00000682235.1:n.1549+90T>C
ENST00000682461.1:c.1632+90T>C	ENSP00000507308.1:n.1632+90T>C
ENST00000682653.1:n.2620T>C
ENST00000682657.1:c.*1453T>C	ENSP00000507753.1:n.*1453T>C
ENST00000682721.1:c.*1329+90T>C	ENSP00000507535.1:n.*1329+90T>C
ENST00000682843.1:c.*1167+90T>C	ENSP00000508173.1:n.*1167+90T>C
ENST00000683003.1:c.*1453T>C	ENSP00000507576.1:n.*1453T>C
ENST00000683133.1:c.1710+90T>C	ENSP00000508108.1:n.1710+90T>C
ENST00000683243.1:c.*679+90T>C	ENSP00000507042.1:n.*679+90T>C
ENST00000683463.1:c.*1015+90T>C	ENSP00000507986.1:n.*1015+90T>C
ENST00000683548.1:n.1984+90T>C
ENST00000683579.1:c.*1424+90T>C	ENSP00000506867.1:n.*1424+90T>C
ENST00000683587.1:n.2057+90T>C
ENST00000683681.1:c.*204+90T>C	ENSP00000508110.1:n.*204+90T>C
ENST00000683735.1:c.*1924+90T>C	ENSP00000508336.1:n.*1924+90T>C
ENST00000683853.1:c.*421T>C	ENSP00000506834.1:n.*421T>C
ENST00000683860.1:c.*646+90T>C	ENSP00000507179.1:n.*646+90T>C
ENST00000683884.1:c.*943T>C	ENSP00000507004.1:n.*943T>C
ENST00000684125.1:c.*186+90T>C	ENSP00000507320.1:n.*186+90T>C
ENST00000684203.1:n.3975+90T>C
ENST00000684231.1:c.*936+90T>C	ENSP00000507748.1:n.*936+90T>C
ENST00000684263.1:c.*1150+90T>C	ENSP00000508369.1:n.*1150+90T>C
ENST00000684305.1:c.1974+90T>C	ENSP00000506819.1:n.1974+90T>C
ENST00000684415.1:c.*1167T>C	ENSP00000507227.1:n.*1167T>C
ENST00000684520.1:c.*875T>C	ENSP00000506826.1:n.*875T>C
ENST00000684602.1:c.*1192+90T>C	ENSP00000507996.1:n.*1192+90T>C
ENST00000684667.1:c.1857+90T>C	ENSP00000507003.1:n.1857+90T>C
ENST00000268097.10:c.1526+90T>C MANE Select	ENSP00000268097.6:n.1526+90T>C
ENST00000268097.9:c.1526+90T>C	ENSP00000268097.5:n.1526+90T>C
ENST00000379915.4:c.608+90T>C	ENSP00000478716.1:n.608+90T>C
ENST00000564677.5:n.318+90T>C
ENST00000565873.1:n.437+90T>C
ENST00000566304.5:c.1559+90T>C	ENSP00000455114.1:n.1559+90T>C
ENST00000567027.5:c.1231T>C
ENST00000567411.5:c.*1047+90T>C	ENSP00000455545.1:n.*1047+90T>C
ENST00000568777.5:n.6836T>C
ENST00000569116.1:n.323T>C
NM_000520.4:c.1526+90T>C	NP_000511.2:n.1526+90T>C
NM_000520.5:c.1526+90T>C	NP_000511.2:n.1526+90T>C
NM_001318825.1:c.1559+90T>C	NP_001305754.1:n.1559+90T>C
NR_134869.1:n.1860T>C
NM_000520.6:c.1526+90T>C MANE Select	NP_000511.2:n.1526+90T>C
NM_001318825.2:c.1559+90T>C	NP_001305754.1:n.1559+90T>C
NR_134869.2:n.1401T>C
NR_134869.3:n.1401T>C