Canonical Allele Identifier: CA393059210

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1804161
• ClinVar RCV Id: RCV002468899
• MyVariant Identifiers: chr15:g.72638619A>G (hg19) ; chr15:g.72346278A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346278A>G , CM000677.2:g.72346278A>G	GRCh38
NC_000015.9:g.72638619A>G , CM000677.1:g.72638619A>G	GRCh37
NC_000015.8:g.70425673A>G	NCBI36
NG_009017.1:g.34902T>C
NG_009017.2:g.34902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*38T>C	ENSP00000457521.2:n.*38T>C
ENST00000682061.1:c.*1040T>C	ENSP00000508316.1:n.*1040T>C
ENST00000682064.1:n.921T>C
ENST00000682177.1:c.1421T>C	ENSP00000507409.1:n.1421T>C
ENST00000682235.1:n.717T>C
ENST00000682461.1:c.1484T>C	ENSP00000507308.1:n.1484T>C
ENST00000682653.1:n.1698T>C
ENST00000682657.1:c.*531T>C	ENSP00000507753.1:n.*531T>C
ENST00000682721.1:c.*1181T>C	ENSP00000507535.1:n.*1181T>C
ENST00000682843.1:c.*1019T>C	ENSP00000508173.1:n.*1019T>C
ENST00000683003.1:c.*531T>C	ENSP00000507576.1:n.*531T>C
ENST00000683133.1:c.1562T>C	ENSP00000508108.1:n.1562T>C
ENST00000683243.1:c.*531T>C	ENSP00000507042.1:n.*531T>C
ENST00000683463.1:c.*183T>C	ENSP00000507986.1:n.*183T>C
ENST00000683548.1:n.1152T>C
ENST00000683579.1:c.*1276T>C	ENSP00000506867.1:n.*1276T>C
ENST00000683587.1:n.1225T>C
ENST00000683681.1:c.1378T>C	ENSP00000508110.1:p.Trp460Arg
ENST00000683735.1:c.*1092T>C	ENSP00000508336.1:n.*1092T>C
ENST00000683853.1:c.*183T>C	ENSP00000506834.1:n.*183T>C
ENST00000683860.1:c.1378T>C	ENSP00000507179.1:p.Trp460Arg
ENST00000683884.1:c.*21T>C	ENSP00000507004.1:n.*21T>C
ENST00000684041.1:c.1378T>C	ENSP00000508382.1:p.Trp460Arg
ENST00000684125.1:c.*38T>C	ENSP00000507320.1:n.*38T>C
ENST00000684203.1:n.3143T>C
ENST00000684231.1:c.*788T>C	ENSP00000507748.1:n.*788T>C
ENST00000684263.1:c.*318T>C	ENSP00000508369.1:n.*318T>C
ENST00000684305.1:c.1826T>C	ENSP00000506819.1:n.1826T>C
ENST00000684415.1:c.*245T>C	ENSP00000507227.1:n.*245T>C
ENST00000684520.1:c.1378T>C	ENSP00000506826.1:p.Trp460Arg
ENST00000684602.1:c.*1044T>C	ENSP00000507996.1:n.*1044T>C
ENST00000684667.1:c.1709T>C	ENSP00000507003.1:n.1709T>C
ENST00000268097.10:c.1378T>C MANE Select	ENSP00000268097.6:p.Trp460Arg
ENST00000268097.9:c.1378T>C	ENSP00000268097.5:p.Trp460Arg
ENST00000379915.4:c.460T>C	ENSP00000478716.1:p.Trp154Arg
ENST00000563762.5:c.873T>C	ENSP00000456346.1:n.873T>C
ENST00000566304.5:c.1411T>C	ENSP00000455114.1:p.Trp471Arg
ENST00000566672.5:c.*788T>C	ENSP00000457037.1:n.*788T>C
ENST00000567027.5:c.993T>C
ENST00000567159.5:c.1378T>C	ENSP00000456489.1:p.Trp460Arg
ENST00000567411.5:c.*899T>C	ENSP00000455545.1:n.*899T>C
ENST00000568777.5:n.6598T>C
ENST00000569410.5:c.*183T>C	ENSP00000457125.1:n.*183T>C
NM_000520.4:c.1378T>C	NP_000511.2:p.Trp460Arg
NM_000520.5:c.1378T>C	NP_000511.2:p.Trp460Arg
NM_001318825.1:c.1411T>C	NP_001305754.1:p.Trp471Arg
NR_134869.1:n.1622T>C
NM_000520.6:c.1378T>C MANE Select	NP_000511.2:p.Trp460Arg
NM_001318825.2:c.1411T>C	NP_001305754.1:p.Trp471Arg
NR_134869.2:n.1163T>C
NR_134869.3:n.1163T>C