Canonical Allele Identifier: CA393058712

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637839C>T (hg19) ; chr15:g.72345498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345498C>T , CM000677.2:g.72345498C>T	GRCh38
NC_000015.9:g.72637839C>T , CM000677.1:g.72637839C>T	GRCh37
NC_000015.8:g.70424893C>T	NCBI36
NG_009017.1:g.35682G>A
NG_009017.2:g.35682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*134G>A	ENSP00000457521.2:n.*134G>A
ENST00000682061.1:c.*1820G>A	ENSP00000508316.1:n.*1820G>A
ENST00000682064.1:n.1701G>A
ENST00000682177.1:c.1517G>A	ENSP00000507409.1:n.1517G>A
ENST00000682235.1:n.1497G>A
ENST00000682461.1:c.1580G>A	ENSP00000507308.1:n.1580G>A
ENST00000682653.1:n.2478G>A
ENST00000682657.1:c.*1311G>A	ENSP00000507753.1:n.*1311G>A
ENST00000682721.1:c.*1277G>A	ENSP00000507535.1:n.*1277G>A
ENST00000682843.1:c.*1115G>A	ENSP00000508173.1:n.*1115G>A
ENST00000683003.1:c.*1311G>A	ENSP00000507576.1:n.*1311G>A
ENST00000683133.1:c.1658G>A	ENSP00000508108.1:n.1658G>A
ENST00000683243.1:c.*627G>A	ENSP00000507042.1:n.*627G>A
ENST00000683463.1:c.*963G>A	ENSP00000507986.1:n.*963G>A
ENST00000683548.1:n.1932G>A
ENST00000683579.1:c.*1372G>A	ENSP00000506867.1:n.*1372G>A
ENST00000683587.1:n.2005G>A
ENST00000683681.1:c.*152G>A	ENSP00000508110.1:n.*152G>A
ENST00000683735.1:c.*1872G>A	ENSP00000508336.1:n.*1872G>A
ENST00000683853.1:c.*279G>A	ENSP00000506834.1:n.*279G>A
ENST00000683860.1:c.*594G>A	ENSP00000507179.1:n.*594G>A
ENST00000683884.1:c.*801G>A	ENSP00000507004.1:n.*801G>A
ENST00000684041.1:c.*607G>A	ENSP00000508382.1:n.*607G>A
ENST00000684125.1:c.*134G>A	ENSP00000507320.1:n.*134G>A
ENST00000684203.1:n.3923G>A
ENST00000684231.1:c.*884G>A	ENSP00000507748.1:n.*884G>A
ENST00000684263.1:c.*1098G>A	ENSP00000508369.1:n.*1098G>A
ENST00000684305.1:c.1922G>A	ENSP00000506819.1:n.1922G>A
ENST00000684415.1:c.*1025G>A	ENSP00000507227.1:n.*1025G>A
ENST00000684520.1:c.*733G>A	ENSP00000506826.1:n.*733G>A
ENST00000684602.1:c.*1140G>A	ENSP00000507996.1:n.*1140G>A
ENST00000684667.1:c.1805G>A	ENSP00000507003.1:n.1805G>A
ENST00000268097.10:c.1474G>A MANE Select	ENSP00000268097.6:p.Asp492Asn
ENST00000268097.9:c.1474G>A	ENSP00000268097.5:p.Asp492Asn
ENST00000379915.4:c.556G>A	ENSP00000478716.1:p.Asp186Asn
ENST00000564677.5:n.266G>A
ENST00000565873.1:n.385G>A
ENST00000566304.5:c.1507G>A	ENSP00000455114.1:p.Asp503Asn
ENST00000567027.5:c.1089G>A
ENST00000567159.5:c.1474G>A	ENSP00000456489.1:p.Asp492Asn
ENST00000567411.5:c.*995G>A	ENSP00000455545.1:n.*995G>A
ENST00000568777.5:n.6694G>A
ENST00000569116.1:n.181G>A
NM_000520.4:c.1474G>A	NP_000511.2:p.Asp492Asn
NM_000520.5:c.1474G>A	NP_000511.2:p.Asp492Asn
NM_001318825.1:c.1507G>A	NP_001305754.1:p.Asp503Asn
NR_134869.1:n.1718G>A
NM_000520.6:c.1474G>A MANE Select	NP_000511.2:p.Asp492Asn
NM_001318825.2:c.1507G>A	NP_001305754.1:p.Asp503Asn
NR_134869.2:n.1259G>A
NR_134869.3:n.1259G>A