Canonical Allele Identifier: CA393058710

Gene: HEXA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*134G>T	ENSP00000457521.2:n.*134G>T
ENST00000682061.1:c.*1820G>T	ENSP00000508316.1:n.*1820G>T
ENST00000682064.1:n.1701G>T
ENST00000682177.1:c.1517G>T	ENSP00000507409.1:n.1517G>T
ENST00000682235.1:n.1497G>T
ENST00000682461.1:c.1580G>T	ENSP00000507308.1:n.1580G>T
ENST00000682653.1:n.2478G>T
ENST00000682657.1:c.*1311G>T	ENSP00000507753.1:n.*1311G>T
ENST00000682721.1:c.*1277G>T	ENSP00000507535.1:n.*1277G>T
ENST00000682843.1:c.*1115G>T	ENSP00000508173.1:n.*1115G>T
ENST00000683003.1:c.*1311G>T	ENSP00000507576.1:n.*1311G>T
ENST00000683133.1:c.1658G>T	ENSP00000508108.1:n.1658G>T
ENST00000683243.1:c.*627G>T	ENSP00000507042.1:n.*627G>T
ENST00000683463.1:c.*963G>T	ENSP00000507986.1:n.*963G>T
ENST00000683548.1:n.1932G>T
ENST00000683579.1:c.*1372G>T	ENSP00000506867.1:n.*1372G>T
ENST00000683587.1:n.2005G>T
ENST00000683681.1:c.*152G>T	ENSP00000508110.1:n.*152G>T
ENST00000683735.1:c.*1872G>T	ENSP00000508336.1:n.*1872G>T
ENST00000683853.1:c.*279G>T	ENSP00000506834.1:n.*279G>T
ENST00000683860.1:c.*594G>T	ENSP00000507179.1:n.*594G>T
ENST00000683884.1:c.*801G>T	ENSP00000507004.1:n.*801G>T
ENST00000684041.1:c.*607G>T	ENSP00000508382.1:n.*607G>T
ENST00000684125.1:c.*134G>T	ENSP00000507320.1:n.*134G>T
ENST00000684203.1:n.3923G>T
ENST00000684231.1:c.*884G>T	ENSP00000507748.1:n.*884G>T
ENST00000684263.1:c.*1098G>T	ENSP00000508369.1:n.*1098G>T
ENST00000684305.1:c.1922G>T	ENSP00000506819.1:n.1922G>T
ENST00000684415.1:c.*1025G>T	ENSP00000507227.1:n.*1025G>T
ENST00000684520.1:c.*733G>T	ENSP00000506826.1:n.*733G>T
ENST00000684602.1:c.*1140G>T	ENSP00000507996.1:n.*1140G>T
ENST00000684667.1:c.1805G>T	ENSP00000507003.1:n.1805G>T
ENST00000268097.10:c.1474G>T MANE Select	ENSP00000268097.6:p.Asp492Tyr
ENST00000268097.9:c.1474G>T	ENSP00000268097.5:p.Asp492Tyr
ENST00000379915.4:c.556G>T	ENSP00000478716.1:p.Asp186Tyr
ENST00000564677.5:n.266G>T
ENST00000565873.1:n.385G>T
ENST00000566304.5:c.1507G>T	ENSP00000455114.1:p.Asp503Tyr
ENST00000567027.5:c.1089G>T
ENST00000567159.5:c.1474G>T	ENSP00000456489.1:p.Asp492Tyr
ENST00000567411.5:c.*995G>T	ENSP00000455545.1:n.*995G>T
ENST00000568777.5:n.6694G>T
ENST00000569116.1:n.181G>T
NM_000520.4:c.1474G>T	NP_000511.2:p.Asp492Tyr
NM_000520.5:c.1474G>T	NP_000511.2:p.Asp492Tyr
NM_001318825.1:c.1507G>T	NP_001305754.1:p.Asp503Tyr
NR_134869.1:n.1718G>T
NM_000520.6:c.1474G>T MANE Select	NP_000511.2:p.Asp492Tyr
NM_001318825.2:c.1507G>T	NP_001305754.1:p.Asp503Tyr
NR_134869.2:n.1259G>T
NR_134869.3:n.1259G>T