Canonical Allele Identifier: CA393058741

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637847A>G (hg19) ; chr15:g.72345506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345506A>G , CM000677.2:g.72345506A>G	GRCh38
NC_000015.9:g.72637847A>G , CM000677.1:g.72637847A>G	GRCh37
NC_000015.8:g.70424901A>G	NCBI36
NG_009017.1:g.35674T>C
NG_009017.2:g.35674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*126T>C	ENSP00000457521.2:n.*126T>C
ENST00000682061.1:c.*1812T>C	ENSP00000508316.1:n.*1812T>C
ENST00000682064.1:n.1693T>C
ENST00000682177.1:c.1509T>C	ENSP00000507409.1:n.1509T>C
ENST00000682235.1:n.1489T>C
ENST00000682461.1:c.1572T>C	ENSP00000507308.1:n.1572T>C
ENST00000682653.1:n.2470T>C
ENST00000682657.1:c.*1303T>C	ENSP00000507753.1:n.*1303T>C
ENST00000682721.1:c.*1269T>C	ENSP00000507535.1:n.*1269T>C
ENST00000682843.1:c.*1107T>C	ENSP00000508173.1:n.*1107T>C
ENST00000683003.1:c.*1303T>C	ENSP00000507576.1:n.*1303T>C
ENST00000683133.1:c.1650T>C	ENSP00000508108.1:n.1650T>C
ENST00000683243.1:c.*619T>C	ENSP00000507042.1:n.*619T>C
ENST00000683463.1:c.*955T>C	ENSP00000507986.1:n.*955T>C
ENST00000683548.1:n.1924T>C
ENST00000683579.1:c.*1364T>C	ENSP00000506867.1:n.*1364T>C
ENST00000683587.1:n.1997T>C
ENST00000683681.1:c.*144T>C	ENSP00000508110.1:n.*144T>C
ENST00000683735.1:c.*1864T>C	ENSP00000508336.1:n.*1864T>C
ENST00000683853.1:c.*271T>C	ENSP00000506834.1:n.*271T>C
ENST00000683860.1:c.*586T>C	ENSP00000507179.1:n.*586T>C
ENST00000683884.1:c.*793T>C	ENSP00000507004.1:n.*793T>C
ENST00000684041.1:c.*599T>C	ENSP00000508382.1:n.*599T>C
ENST00000684125.1:c.*126T>C	ENSP00000507320.1:n.*126T>C
ENST00000684203.1:n.3915T>C
ENST00000684231.1:c.*876T>C	ENSP00000507748.1:n.*876T>C
ENST00000684263.1:c.*1090T>C	ENSP00000508369.1:n.*1090T>C
ENST00000684305.1:c.1914T>C	ENSP00000506819.1:n.1914T>C
ENST00000684415.1:c.*1017T>C	ENSP00000507227.1:n.*1017T>C
ENST00000684520.1:c.*725T>C	ENSP00000506826.1:n.*725T>C
ENST00000684602.1:c.*1132T>C	ENSP00000507996.1:n.*1132T>C
ENST00000684667.1:c.1797T>C	ENSP00000507003.1:n.1797T>C
ENST00000268097.10:c.1466T>C MANE Select	ENSP00000268097.6:p.Leu489Ser
ENST00000268097.9:c.1466T>C	ENSP00000268097.5:p.Leu489Ser
ENST00000379915.4:c.548T>C	ENSP00000478716.1:p.Leu183Ser
ENST00000564677.5:n.258T>C
ENST00000565873.1:n.377T>C
ENST00000566304.5:c.1499T>C	ENSP00000455114.1:p.Leu500Ser
ENST00000567027.5:c.1081T>C
ENST00000567159.5:c.1466T>C	ENSP00000456489.1:p.Leu489Ser
ENST00000567411.5:c.*987T>C	ENSP00000455545.1:n.*987T>C
ENST00000568777.5:n.6686T>C
ENST00000569116.1:n.173T>C
NM_000520.4:c.1466T>C	NP_000511.2:p.Leu489Ser
NM_000520.5:c.1466T>C	NP_000511.2:p.Leu489Ser
NM_001318825.1:c.1499T>C	NP_001305754.1:p.Leu500Ser
NR_134869.1:n.1710T>C
NM_000520.6:c.1466T>C MANE Select	NP_000511.2:p.Leu489Ser
NM_001318825.2:c.1499T>C	NP_001305754.1:p.Leu500Ser
NR_134869.2:n.1251T>C
NR_134869.3:n.1251T>C