Canonical Allele Identifier: CA491111610

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637861C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345520C>A , CM000677.2:g.72345520C>A	GRCh38
NC_000015.9:g.72637861C>A , CM000677.1:g.72637861C>A	GRCh37
NC_000015.8:g.70424915C>A	NCBI36
NG_009017.1:g.35660G>T
NG_009017.2:g.35660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*112G>T	ENSP00000457521.2:n.*112G>T
ENST00000682061.1:c.*1798G>T	ENSP00000508316.1:n.*1798G>T
ENST00000682064.1:n.1679G>T
ENST00000682177.1:c.1495G>T	ENSP00000507409.1:n.1495G>T
ENST00000682235.1:n.1475G>T
ENST00000682461.1:c.1558G>T	ENSP00000507308.1:n.1558G>T
ENST00000682653.1:n.2456G>T
ENST00000682657.1:c.*1289G>T	ENSP00000507753.1:n.*1289G>T
ENST00000682721.1:c.*1255G>T	ENSP00000507535.1:n.*1255G>T
ENST00000682843.1:c.*1093G>T	ENSP00000508173.1:n.*1093G>T
ENST00000683003.1:c.*1289G>T	ENSP00000507576.1:n.*1289G>T
ENST00000683133.1:c.1636G>T	ENSP00000508108.1:n.1636G>T
ENST00000683243.1:c.*605G>T	ENSP00000507042.1:n.*605G>T
ENST00000683463.1:c.*941G>T	ENSP00000507986.1:n.*941G>T
ENST00000683548.1:n.1910G>T
ENST00000683579.1:c.*1350G>T	ENSP00000506867.1:n.*1350G>T
ENST00000683587.1:n.1983G>T
ENST00000683681.1:c.*130G>T	ENSP00000508110.1:n.*130G>T
ENST00000683735.1:c.*1850G>T	ENSP00000508336.1:n.*1850G>T
ENST00000683853.1:c.*257G>T	ENSP00000506834.1:n.*257G>T
ENST00000683860.1:c.*572G>T	ENSP00000507179.1:n.*572G>T
ENST00000683884.1:c.*779G>T	ENSP00000507004.1:n.*779G>T
ENST00000684041.1:c.*585G>T	ENSP00000508382.1:n.*585G>T
ENST00000684125.1:c.*112G>T	ENSP00000507320.1:n.*112G>T
ENST00000684203.1:n.3901G>T
ENST00000684231.1:c.*862G>T	ENSP00000507748.1:n.*862G>T
ENST00000684263.1:c.*1076G>T	ENSP00000508369.1:n.*1076G>T
ENST00000684305.1:c.1900G>T	ENSP00000506819.1:n.1900G>T
ENST00000684415.1:c.*1003G>T	ENSP00000507227.1:n.*1003G>T
ENST00000684520.1:c.*711G>T	ENSP00000506826.1:n.*711G>T
ENST00000684602.1:c.*1118G>T	ENSP00000507996.1:n.*1118G>T
ENST00000684667.1:c.1783G>T	ENSP00000507003.1:n.1783G>T
ENST00000268097.10:c.1452G>T MANE Select	ENSP00000268097.6:p.Leu484=
ENST00000268097.9:c.1452G>T	ENSP00000268097.5:p.Leu484=
ENST00000379915.4:c.534G>T	ENSP00000478716.1:p.Leu178=
ENST00000564677.5:n.244G>T
ENST00000565873.1:n.363G>T
ENST00000566304.5:c.1485G>T	ENSP00000455114.1:p.Leu495=
ENST00000567027.5:c.1067G>T
ENST00000567159.5:c.1452G>T	ENSP00000456489.1:p.Leu484=
ENST00000567411.5:c.*973G>T	ENSP00000455545.1:n.*973G>T
ENST00000568777.5:n.6672G>T
ENST00000569116.1:n.159G>T
NM_000520.4:c.1452G>T	NP_000511.2:p.Leu484=
NM_000520.5:c.1452G>T	NP_000511.2:p.Leu484=
NM_001318825.1:c.1485G>T	NP_001305754.1:p.Leu495=
NR_134869.1:n.1696G>T
NM_000520.6:c.1452G>T MANE Select	NP_000511.2:p.Leu484=
NM_001318825.2:c.1485G>T	NP_001305754.1:p.Leu495=
NR_134869.2:n.1237G>T
NR_134869.3:n.1237G>T