Canonical Allele Identifier: CA491111287

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637810T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345469T>G , CM000677.2:g.72345469T>G	GRCh38
NC_000015.9:g.72637810T>G , CM000677.1:g.72637810T>G	GRCh37
NC_000015.8:g.70424864T>G	NCBI36
NG_009017.1:g.35711A>C
NG_009017.2:g.35711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*163A>C	ENSP00000457521.2:n.*163A>C
ENST00000682061.1:c.*1849A>C	ENSP00000508316.1:n.*1849A>C
ENST00000682064.1:n.1730A>C
ENST00000682177.1:c.1546A>C	ENSP00000507409.1:n.1546A>C
ENST00000682235.1:n.1526A>C
ENST00000682461.1:c.1609A>C	ENSP00000507308.1:n.1609A>C
ENST00000682653.1:n.2507A>C
ENST00000682657.1:c.*1340A>C	ENSP00000507753.1:n.*1340A>C
ENST00000682721.1:c.*1306A>C	ENSP00000507535.1:n.*1306A>C
ENST00000682843.1:c.*1144A>C	ENSP00000508173.1:n.*1144A>C
ENST00000683003.1:c.*1340A>C	ENSP00000507576.1:n.*1340A>C
ENST00000683133.1:c.1687A>C	ENSP00000508108.1:n.1687A>C
ENST00000683243.1:c.*656A>C	ENSP00000507042.1:n.*656A>C
ENST00000683463.1:c.*992A>C	ENSP00000507986.1:n.*992A>C
ENST00000683548.1:n.1961A>C
ENST00000683579.1:c.*1401A>C	ENSP00000506867.1:n.*1401A>C
ENST00000683587.1:n.2034A>C
ENST00000683681.1:c.*181A>C	ENSP00000508110.1:n.*181A>C
ENST00000683735.1:c.*1901A>C	ENSP00000508336.1:n.*1901A>C
ENST00000683853.1:c.*308A>C	ENSP00000506834.1:n.*308A>C
ENST00000683860.1:c.*623A>C	ENSP00000507179.1:n.*623A>C
ENST00000683884.1:c.*830A>C	ENSP00000507004.1:n.*830A>C
ENST00000684041.1:c.*636A>C	ENSP00000508382.1:n.*636A>C
ENST00000684125.1:c.*163A>C	ENSP00000507320.1:n.*163A>C
ENST00000684203.1:n.3952A>C
ENST00000684231.1:c.*913A>C	ENSP00000507748.1:n.*913A>C
ENST00000684263.1:c.*1127A>C	ENSP00000508369.1:n.*1127A>C
ENST00000684305.1:c.1951A>C	ENSP00000506819.1:n.1951A>C
ENST00000684415.1:c.*1054A>C	ENSP00000507227.1:n.*1054A>C
ENST00000684520.1:c.*762A>C	ENSP00000506826.1:n.*762A>C
ENST00000684602.1:c.*1169A>C	ENSP00000507996.1:n.*1169A>C
ENST00000684667.1:c.1834A>C	ENSP00000507003.1:n.1834A>C
ENST00000268097.10:c.1503A>C MANE Select	ENSP00000268097.6:p.Ser501=
ENST00000268097.9:c.1503A>C	ENSP00000268097.5:p.Ser501=
ENST00000379915.4:c.585A>C	ENSP00000478716.1:p.Ser195=
ENST00000564677.5:n.295A>C
ENST00000565873.1:n.414A>C
ENST00000566304.5:c.1536A>C	ENSP00000455114.1:p.Ser512=
ENST00000567027.5:c.1118A>C
ENST00000567159.5:c.1503A>C	ENSP00000456489.1:p.Ser501=
ENST00000567411.5:c.*1024A>C	ENSP00000455545.1:n.*1024A>C
ENST00000568777.5:n.6723A>C
ENST00000569116.1:n.210A>C
NM_000520.4:c.1503A>C	NP_000511.2:p.Ser501=
NM_000520.5:c.1503A>C	NP_000511.2:p.Ser501=
NM_001318825.1:c.1536A>C	NP_001305754.1:p.Ser512=
NR_134869.1:n.1747A>C
NM_000520.6:c.1503A>C MANE Select	NP_000511.2:p.Ser501=
NM_001318825.2:c.1536A>C	NP_001305754.1:p.Ser512=
NR_134869.2:n.1288A>C
NR_134869.3:n.1288A>C