Canonical Allele Identifier: CA393058538

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637807G>T (hg19) ; chr15:g.72345466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345466G>T , CM000677.2:g.72345466G>T	GRCh38
NC_000015.9:g.72637807G>T , CM000677.1:g.72637807G>T	GRCh37
NC_000015.8:g.70424861G>T	NCBI36
NG_009017.1:g.35714C>A
NG_009017.2:g.35714C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*166C>A	ENSP00000457521.2:n.*166C>A
ENST00000682061.1:c.*1852C>A	ENSP00000508316.1:n.*1852C>A
ENST00000682064.1:n.1733C>A
ENST00000682177.1:c.1549C>A	ENSP00000507409.1:n.1549C>A
ENST00000682235.1:n.1529C>A
ENST00000682461.1:c.1612C>A	ENSP00000507308.1:n.1612C>A
ENST00000682653.1:n.2510C>A
ENST00000682657.1:c.*1343C>A	ENSP00000507753.1:n.*1343C>A
ENST00000682721.1:c.*1309C>A	ENSP00000507535.1:n.*1309C>A
ENST00000682843.1:c.*1147C>A	ENSP00000508173.1:n.*1147C>A
ENST00000683003.1:c.*1343C>A	ENSP00000507576.1:n.*1343C>A
ENST00000683133.1:c.1690C>A	ENSP00000508108.1:n.1690C>A
ENST00000683243.1:c.*659C>A	ENSP00000507042.1:n.*659C>A
ENST00000683463.1:c.*995C>A	ENSP00000507986.1:n.*995C>A
ENST00000683548.1:n.1964C>A
ENST00000683579.1:c.*1404C>A	ENSP00000506867.1:n.*1404C>A
ENST00000683587.1:n.2037C>A
ENST00000683681.1:c.*184C>A	ENSP00000508110.1:n.*184C>A
ENST00000683735.1:c.*1904C>A	ENSP00000508336.1:n.*1904C>A
ENST00000683853.1:c.*311C>A	ENSP00000506834.1:n.*311C>A
ENST00000683860.1:c.*626C>A	ENSP00000507179.1:n.*626C>A
ENST00000683884.1:c.*833C>A	ENSP00000507004.1:n.*833C>A
ENST00000684125.1:c.*166C>A	ENSP00000507320.1:n.*166C>A
ENST00000684203.1:n.3955C>A
ENST00000684231.1:c.*916C>A	ENSP00000507748.1:n.*916C>A
ENST00000684263.1:c.*1130C>A	ENSP00000508369.1:n.*1130C>A
ENST00000684305.1:c.1954C>A	ENSP00000506819.1:n.1954C>A
ENST00000684415.1:c.*1057C>A	ENSP00000507227.1:n.*1057C>A
ENST00000684520.1:c.*765C>A	ENSP00000506826.1:n.*765C>A
ENST00000684602.1:c.*1172C>A	ENSP00000507996.1:n.*1172C>A
ENST00000684667.1:c.1837C>A	ENSP00000507003.1:n.1837C>A
ENST00000268097.10:c.1506C>A MANE Select	ENSP00000268097.6:p.His502Gln
ENST00000268097.9:c.1506C>A	ENSP00000268097.5:p.His502Gln
ENST00000379915.4:c.588C>A	ENSP00000478716.1:p.His196Gln
ENST00000564677.5:n.298C>A
ENST00000565873.1:n.417C>A
ENST00000566304.5:c.1539C>A	ENSP00000455114.1:p.His513Gln
ENST00000567027.5:c.1121C>A
ENST00000567159.5:c.1506C>A	ENSP00000456489.1:p.His502Gln
ENST00000567411.5:c.*1027C>A	ENSP00000455545.1:n.*1027C>A
ENST00000568777.5:n.6726C>A
ENST00000569116.1:n.213C>A
NM_000520.4:c.1506C>A	NP_000511.2:p.His502Gln
NM_000520.5:c.1506C>A	NP_000511.2:p.His502Gln
NM_001318825.1:c.1539C>A	NP_001305754.1:p.His513Gln
NR_134869.1:n.1750C>A
NM_000520.6:c.1506C>A MANE Select	NP_000511.2:p.His502Gln
NM_001318825.2:c.1539C>A	NP_001305754.1:p.His513Gln
NR_134869.2:n.1291C>A
NR_134869.3:n.1291C>A