Canonical Allele Identifier: CA393058763

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637851T>G (hg19) ; chr15:g.72345510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345510T>G , CM000677.2:g.72345510T>G	GRCh38
NC_000015.9:g.72637851T>G , CM000677.1:g.72637851T>G	GRCh37
NC_000015.8:g.70424905T>G	NCBI36
NG_009017.1:g.35670A>C
NG_009017.2:g.35670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*122A>C	ENSP00000457521.2:n.*122A>C
ENST00000682061.1:c.*1808A>C	ENSP00000508316.1:n.*1808A>C
ENST00000682064.1:n.1689A>C
ENST00000682177.1:c.1505A>C	ENSP00000507409.1:n.1505A>C
ENST00000682235.1:n.1485A>C
ENST00000682461.1:c.1568A>C	ENSP00000507308.1:n.1568A>C
ENST00000682653.1:n.2466A>C
ENST00000682657.1:c.*1299A>C	ENSP00000507753.1:n.*1299A>C
ENST00000682721.1:c.*1265A>C	ENSP00000507535.1:n.*1265A>C
ENST00000682843.1:c.*1103A>C	ENSP00000508173.1:n.*1103A>C
ENST00000683003.1:c.*1299A>C	ENSP00000507576.1:n.*1299A>C
ENST00000683133.1:c.1646A>C	ENSP00000508108.1:n.1646A>C
ENST00000683243.1:c.*615A>C	ENSP00000507042.1:n.*615A>C
ENST00000683463.1:c.*951A>C	ENSP00000507986.1:n.*951A>C
ENST00000683548.1:n.1920A>C
ENST00000683579.1:c.*1360A>C	ENSP00000506867.1:n.*1360A>C
ENST00000683587.1:n.1993A>C
ENST00000683681.1:c.*140A>C	ENSP00000508110.1:n.*140A>C
ENST00000683735.1:c.*1860A>C	ENSP00000508336.1:n.*1860A>C
ENST00000683853.1:c.*267A>C	ENSP00000506834.1:n.*267A>C
ENST00000683860.1:c.*582A>C	ENSP00000507179.1:n.*582A>C
ENST00000683884.1:c.*789A>C	ENSP00000507004.1:n.*789A>C
ENST00000684041.1:c.*595A>C	ENSP00000508382.1:n.*595A>C
ENST00000684125.1:c.*122A>C	ENSP00000507320.1:n.*122A>C
ENST00000684203.1:n.3911A>C
ENST00000684231.1:c.*872A>C	ENSP00000507748.1:n.*872A>C
ENST00000684263.1:c.*1086A>C	ENSP00000508369.1:n.*1086A>C
ENST00000684305.1:c.1910A>C	ENSP00000506819.1:n.1910A>C
ENST00000684415.1:c.*1013A>C	ENSP00000507227.1:n.*1013A>C
ENST00000684520.1:c.*721A>C	ENSP00000506826.1:n.*721A>C
ENST00000684602.1:c.*1128A>C	ENSP00000507996.1:n.*1128A>C
ENST00000684667.1:c.1793A>C	ENSP00000507003.1:n.1793A>C
ENST00000268097.10:c.1462A>C MANE Select	ENSP00000268097.6:p.Lys488Gln
ENST00000268097.9:c.1462A>C	ENSP00000268097.5:p.Lys488Gln
ENST00000379915.4:c.544A>C	ENSP00000478716.1:p.Lys182Gln
ENST00000564677.5:n.254A>C
ENST00000565873.1:n.373A>C
ENST00000566304.5:c.1495A>C	ENSP00000455114.1:p.Lys499Gln
ENST00000567027.5:c.1077A>C
ENST00000567159.5:c.1462A>C	ENSP00000456489.1:p.Lys488Gln
ENST00000567411.5:c.*983A>C	ENSP00000455545.1:n.*983A>C
ENST00000568777.5:n.6682A>C
ENST00000569116.1:n.169A>C
NM_000520.4:c.1462A>C	NP_000511.2:p.Lys488Gln
NM_000520.5:c.1462A>C	NP_000511.2:p.Lys488Gln
NM_001318825.1:c.1495A>C	NP_001305754.1:p.Lys499Gln
NR_134869.1:n.1706A>C
NM_000520.6:c.1462A>C MANE Select	NP_000511.2:p.Lys488Gln
NM_001318825.2:c.1495A>C	NP_001305754.1:p.Lys499Gln
NR_134869.2:n.1247A>C
NR_134869.3:n.1247A>C