Canonical Allele Identifier: CA491111355
Gene: HEXA HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72637822A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345481A>G , CM000677.2:g.72345481A>G GRCh38
NC_000015.9:g.72637822A>G , CM000677.1:g.72637822A>G GRCh37
NC_000015.8:g.70424876A>G NCBI36
NG_009017.1:g.35699T>C
NG_009017.2:g.35699T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*151T>C ENSP00000457521.2:n.*151T>C
ENST00000682061.1:c.*1837T>C ENSP00000508316.1:n.*1837T>C
ENST00000682064.1:n.1718T>C
ENST00000682177.1:c.1534T>C ENSP00000507409.1:n.1534T>C
ENST00000682235.1:n.1514T>C
ENST00000682461.1:c.1597T>C ENSP00000507308.1:n.1597T>C
ENST00000682653.1:n.2495T>C
ENST00000682657.1:c.*1328T>C ENSP00000507753.1:n.*1328T>C
ENST00000682721.1:c.*1294T>C ENSP00000507535.1:n.*1294T>C
ENST00000682843.1:c.*1132T>C ENSP00000508173.1:n.*1132T>C
ENST00000683003.1:c.*1328T>C ENSP00000507576.1:n.*1328T>C
ENST00000683133.1:c.1675T>C ENSP00000508108.1:n.1675T>C
ENST00000683243.1:c.*644T>C ENSP00000507042.1:n.*644T>C
ENST00000683463.1:c.*980T>C ENSP00000507986.1:n.*980T>C
ENST00000683548.1:n.1949T>C
ENST00000683579.1:c.*1389T>C ENSP00000506867.1:n.*1389T>C
ENST00000683587.1:n.2022T>C
ENST00000683681.1:c.*169T>C ENSP00000508110.1:n.*169T>C
ENST00000683735.1:c.*1889T>C ENSP00000508336.1:n.*1889T>C
ENST00000683853.1:c.*296T>C ENSP00000506834.1:n.*296T>C
ENST00000683860.1:c.*611T>C ENSP00000507179.1:n.*611T>C
ENST00000683884.1:c.*818T>C ENSP00000507004.1:n.*818T>C
ENST00000684041.1:c.*624T>C ENSP00000508382.1:n.*624T>C
ENST00000684125.1:c.*151T>C ENSP00000507320.1:n.*151T>C
ENST00000684203.1:n.3940T>C
ENST00000684231.1:c.*901T>C ENSP00000507748.1:n.*901T>C
ENST00000684263.1:c.*1115T>C ENSP00000508369.1:n.*1115T>C
ENST00000684305.1:c.1939T>C ENSP00000506819.1:n.1939T>C
ENST00000684415.1:c.*1042T>C ENSP00000507227.1:n.*1042T>C
ENST00000684520.1:c.*750T>C ENSP00000506826.1:n.*750T>C
ENST00000684602.1:c.*1157T>C ENSP00000507996.1:n.*1157T>C
ENST00000684667.1:c.1822T>C ENSP00000507003.1:n.1822T>C
ENST00000268097.10:c.1491T>C MANE Select ENSP00000268097.6:p.Tyr497=
ENST00000268097.9:c.1491T>C ENSP00000268097.5:p.Tyr497=
ENST00000379915.4:c.573T>C ENSP00000478716.1:p.Tyr191=
ENST00000564677.5:n.283T>C
ENST00000565873.1:n.402T>C
ENST00000566304.5:c.1524T>C ENSP00000455114.1:p.Tyr508=
ENST00000567027.5:c.1106T>C
ENST00000567159.5:c.1491T>C ENSP00000456489.1:p.Tyr497=
ENST00000567411.5:c.*1012T>C ENSP00000455545.1:n.*1012T>C
ENST00000568777.5:n.6711T>C
ENST00000569116.1:n.198T>C
NM_000520.4:c.1491T>C NP_000511.2:p.Tyr497=
NM_000520.5:c.1491T>C NP_000511.2:p.Tyr497=
NM_001318825.1:c.1524T>C NP_001305754.1:p.Tyr508=
NR_134869.1:n.1735T>C
NM_000520.6:c.1491T>C MANE Select NP_000511.2:p.Tyr497=
NM_001318825.2:c.1524T>C NP_001305754.1:p.Tyr508=
NR_134869.2:n.1276T>C
NR_134869.3:n.1276T>C