Canonical Allele Identifier: CA393058413

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637787C>G (hg19) ; chr15:g.72345446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345446C>G , CM000677.2:g.72345446C>G	GRCh38
NC_000015.9:g.72637787C>G , CM000677.1:g.72637787C>G	GRCh37
NC_000015.8:g.70424841C>G	NCBI36
NG_009017.1:g.35734G>C
NG_009017.2:g.35734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*186G>C	ENSP00000457521.2:n.*186G>C
ENST00000682061.1:c.*1872G>C	ENSP00000508316.1:n.*1872G>C
ENST00000682064.1:n.1753G>C
ENST00000682177.1:c.1569G>C	ENSP00000507409.1:n.1569G>C
ENST00000682235.1:n.1549G>C
ENST00000682461.1:c.1632G>C	ENSP00000507308.1:n.1632G>C
ENST00000682653.1:n.2530G>C
ENST00000682657.1:c.*1363G>C	ENSP00000507753.1:n.*1363G>C
ENST00000682721.1:c.*1329G>C	ENSP00000507535.1:n.*1329G>C
ENST00000682843.1:c.*1167G>C	ENSP00000508173.1:n.*1167G>C
ENST00000683003.1:c.*1363G>C	ENSP00000507576.1:n.*1363G>C
ENST00000683133.1:c.1710G>C	ENSP00000508108.1:n.1710G>C
ENST00000683243.1:c.*679G>C	ENSP00000507042.1:n.*679G>C
ENST00000683463.1:c.*1015G>C	ENSP00000507986.1:n.*1015G>C
ENST00000683548.1:n.1984G>C
ENST00000683579.1:c.*1424G>C	ENSP00000506867.1:n.*1424G>C
ENST00000683587.1:n.2057G>C
ENST00000683681.1:c.*204G>C	ENSP00000508110.1:n.*204G>C
ENST00000683735.1:c.*1924G>C	ENSP00000508336.1:n.*1924G>C
ENST00000683853.1:c.*331G>C	ENSP00000506834.1:n.*331G>C
ENST00000683860.1:c.*646G>C	ENSP00000507179.1:n.*646G>C
ENST00000683884.1:c.*853G>C	ENSP00000507004.1:n.*853G>C
ENST00000684125.1:c.*186G>C	ENSP00000507320.1:n.*186G>C
ENST00000684203.1:n.3975G>C
ENST00000684231.1:c.*936G>C	ENSP00000507748.1:n.*936G>C
ENST00000684263.1:c.*1150G>C	ENSP00000508369.1:n.*1150G>C
ENST00000684305.1:c.1974G>C	ENSP00000506819.1:n.1974G>C
ENST00000684415.1:c.*1077G>C	ENSP00000507227.1:n.*1077G>C
ENST00000684520.1:c.*785G>C	ENSP00000506826.1:n.*785G>C
ENST00000684602.1:c.*1192G>C	ENSP00000507996.1:n.*1192G>C
ENST00000684667.1:c.1857G>C	ENSP00000507003.1:n.1857G>C
ENST00000268097.10:c.1526G>C MANE Select	ENSP00000268097.6:p.Arg509Thr
ENST00000268097.9:c.1526G>C	ENSP00000268097.5:p.Arg509Thr
ENST00000379915.4:c.608G>C	ENSP00000478716.1:p.Arg203Thr
ENST00000564677.5:n.318G>C
ENST00000565873.1:n.437G>C
ENST00000566304.5:c.1559G>C	ENSP00000455114.1:p.Arg520Thr
ENST00000567027.5:c.1141G>C
ENST00000567159.5:c.1526G>C	ENSP00000456489.1:p.Arg509Thr
ENST00000567411.5:c.*1047G>C	ENSP00000455545.1:n.*1047G>C
ENST00000568777.5:n.6746G>C
ENST00000569116.1:n.233G>C
NM_000520.4:c.1526G>C	NP_000511.2:p.Arg509Thr
NM_000520.5:c.1526G>C	NP_000511.2:p.Arg509Thr
NM_001318825.1:c.1559G>C	NP_001305754.1:p.Arg520Thr
NR_134869.1:n.1770G>C
NM_000520.6:c.1526G>C MANE Select	NP_000511.2:p.Arg509Thr
NM_001318825.2:c.1559G>C	NP_001305754.1:p.Arg520Thr
NR_134869.2:n.1311G>C
NR_134869.3:n.1311G>C