Canonical Allele Identifier: CA16044198

Gene: HEXA

Linked Data

• ClinVar Variation Id: 375363
• ClinVar RCV Id: RCV000416429
• dbSNP Id: rs121907978
• MyVariant Identifiers: chr15:g.72638637C>G (hg19) ; chr15:g.72346296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346296C>G , CM000677.2:g.72346296C>G	GRCh38
NC_000015.9:g.72638637C>G , CM000677.1:g.72638637C>G	GRCh37
NC_000015.8:g.70425691C>G	NCBI36
NG_009017.1:g.34884G>C
NG_009017.2:g.34884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*20G>C	ENSP00000457521.2:n.*20G>C
ENST00000682061.1:c.*1022G>C	ENSP00000508316.1:n.*1022G>C
ENST00000682064.1:n.903G>C
ENST00000682177.1:c.1403G>C	ENSP00000507409.1:n.1403G>C
ENST00000682235.1:n.699G>C
ENST00000682461.1:c.1466G>C	ENSP00000507308.1:n.1466G>C
ENST00000682653.1:n.1680G>C
ENST00000682657.1:c.*513G>C	ENSP00000507753.1:n.*513G>C
ENST00000682721.1:c.*1163G>C	ENSP00000507535.1:n.*1163G>C
ENST00000682843.1:c.*1001G>C	ENSP00000508173.1:n.*1001G>C
ENST00000683003.1:c.*513G>C	ENSP00000507576.1:n.*513G>C
ENST00000683133.1:c.1544G>C	ENSP00000508108.1:n.1544G>C
ENST00000683243.1:c.*513G>C	ENSP00000507042.1:n.*513G>C
ENST00000683463.1:c.*165G>C	ENSP00000507986.1:n.*165G>C
ENST00000683548.1:n.1134G>C
ENST00000683579.1:c.*1258G>C	ENSP00000506867.1:n.*1258G>C
ENST00000683587.1:n.1207G>C
ENST00000683681.1:c.1360G>C	ENSP00000508110.1:p.Gly454Arg
ENST00000683735.1:c.*1074G>C	ENSP00000508336.1:n.*1074G>C
ENST00000683853.1:c.*165G>C	ENSP00000506834.1:n.*165G>C
ENST00000683860.1:c.1360G>C	ENSP00000507179.1:p.Gly454Arg
ENST00000683884.1:c.*3G>C	ENSP00000507004.1:n.*3G>C
ENST00000684041.1:c.1360G>C	ENSP00000508382.1:p.Gly454Arg
ENST00000684125.1:c.*20G>C	ENSP00000507320.1:n.*20G>C
ENST00000684203.1:n.3125G>C
ENST00000684231.1:c.*770G>C	ENSP00000507748.1:n.*770G>C
ENST00000684263.1:c.*300G>C	ENSP00000508369.1:n.*300G>C
ENST00000684305.1:c.1808G>C	ENSP00000506819.1:n.1808G>C
ENST00000684415.1:c.*227G>C	ENSP00000507227.1:n.*227G>C
ENST00000684520.1:c.1360G>C	ENSP00000506826.1:p.Gly454Arg
ENST00000684602.1:c.*1026G>C	ENSP00000507996.1:n.*1026G>C
ENST00000684667.1:c.1691G>C	ENSP00000507003.1:n.1691G>C
ENST00000268097.10:c.1360G>C MANE Select	ENSP00000268097.6:p.Gly454Arg
ENST00000268097.9:c.1360G>C	ENSP00000268097.5:p.Gly454Arg
ENST00000379915.4:c.442G>C	ENSP00000478716.1:p.Gly148Arg
ENST00000563762.5:c.855G>C	ENSP00000456346.1:n.855G>C
ENST00000566304.5:c.1393G>C	ENSP00000455114.1:p.Gly465Arg
ENST00000566672.5:c.*770G>C	ENSP00000457037.1:n.*770G>C
ENST00000567027.5:c.975G>C
ENST00000567159.5:c.1360G>C	ENSP00000456489.1:p.Gly454Arg
ENST00000567411.5:c.*881G>C	ENSP00000455545.1:n.*881G>C
ENST00000568777.5:n.6580G>C
ENST00000569410.5:c.*165G>C	ENSP00000457125.1:n.*165G>C
NM_000520.4:c.1360G>C	NP_000511.2:p.Gly454Arg
NM_000520.5:c.1360G>C	NP_000511.2:p.Gly454Arg
NM_001318825.1:c.1393G>C	NP_001305754.1:p.Gly465Arg
NR_134869.1:n.1604G>C
NM_000520.6:c.1360G>C MANE Select	NP_000511.2:p.Gly454Arg
NM_001318825.2:c.1393G>C	NP_001305754.1:p.Gly465Arg
NR_134869.2:n.1145G>C
NR_134869.3:n.1145G>C