Canonical Allele Identifier: CA393058483

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637797C>A (hg19) ; chr15:g.72345456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345456C>A , CM000677.2:g.72345456C>A	GRCh38
NC_000015.9:g.72637797C>A , CM000677.1:g.72637797C>A	GRCh37
NC_000015.8:g.70424851C>A	NCBI36
NG_009017.1:g.35724G>T
NG_009017.2:g.35724G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*176G>T	ENSP00000457521.2:n.*176G>T
ENST00000682061.1:c.*1862G>T	ENSP00000508316.1:n.*1862G>T
ENST00000682064.1:n.1743G>T
ENST00000682177.1:c.1559G>T	ENSP00000507409.1:n.1559G>T
ENST00000682235.1:n.1539G>T
ENST00000682461.1:c.1622G>T	ENSP00000507308.1:n.1622G>T
ENST00000682653.1:n.2520G>T
ENST00000682657.1:c.*1353G>T	ENSP00000507753.1:n.*1353G>T
ENST00000682721.1:c.*1319G>T	ENSP00000507535.1:n.*1319G>T
ENST00000682843.1:c.*1157G>T	ENSP00000508173.1:n.*1157G>T
ENST00000683003.1:c.*1353G>T	ENSP00000507576.1:n.*1353G>T
ENST00000683133.1:c.1700G>T	ENSP00000508108.1:n.1700G>T
ENST00000683243.1:c.*669G>T	ENSP00000507042.1:n.*669G>T
ENST00000683463.1:c.*1005G>T	ENSP00000507986.1:n.*1005G>T
ENST00000683548.1:n.1974G>T
ENST00000683579.1:c.*1414G>T	ENSP00000506867.1:n.*1414G>T
ENST00000683587.1:n.2047G>T
ENST00000683681.1:c.*194G>T	ENSP00000508110.1:n.*194G>T
ENST00000683735.1:c.*1914G>T	ENSP00000508336.1:n.*1914G>T
ENST00000683853.1:c.*321G>T	ENSP00000506834.1:n.*321G>T
ENST00000683860.1:c.*636G>T	ENSP00000507179.1:n.*636G>T
ENST00000683884.1:c.*843G>T	ENSP00000507004.1:n.*843G>T
ENST00000684125.1:c.*176G>T	ENSP00000507320.1:n.*176G>T
ENST00000684203.1:n.3965G>T
ENST00000684231.1:c.*926G>T	ENSP00000507748.1:n.*926G>T
ENST00000684263.1:c.*1140G>T	ENSP00000508369.1:n.*1140G>T
ENST00000684305.1:c.1964G>T	ENSP00000506819.1:n.1964G>T
ENST00000684415.1:c.*1067G>T	ENSP00000507227.1:n.*1067G>T
ENST00000684520.1:c.*775G>T	ENSP00000506826.1:n.*775G>T
ENST00000684602.1:c.*1182G>T	ENSP00000507996.1:n.*1182G>T
ENST00000684667.1:c.1847G>T	ENSP00000507003.1:n.1847G>T
ENST00000268097.10:c.1516G>T MANE Select	ENSP00000268097.6:p.Glu506Ter
ENST00000268097.9:c.1516G>T	ENSP00000268097.5:p.Glu506Ter
ENST00000379915.4:c.598G>T	ENSP00000478716.1:p.Glu200Ter
ENST00000564677.5:n.308G>T
ENST00000565873.1:n.427G>T
ENST00000566304.5:c.1549G>T	ENSP00000455114.1:p.Glu517Ter
ENST00000567027.5:c.1131G>T
ENST00000567159.5:c.1516G>T	ENSP00000456489.1:p.Glu506Ter
ENST00000567411.5:c.*1037G>T	ENSP00000455545.1:n.*1037G>T
ENST00000568777.5:n.6736G>T
ENST00000569116.1:n.223G>T
NM_000520.4:c.1516G>T	NP_000511.2:p.Glu506Ter
NM_000520.5:c.1516G>T	NP_000511.2:p.Glu506Ter
NM_001318825.1:c.1549G>T	NP_001305754.1:p.Glu517Ter
NR_134869.1:n.1760G>T
NM_000520.6:c.1516G>T MANE Select	NP_000511.2:p.Glu506Ter
NM_001318825.2:c.1549G>T	NP_001305754.1:p.Glu517Ter
NR_134869.2:n.1301G>T
NR_134869.3:n.1301G>T