Canonical Allele Identifier: CA491113317

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345794-A-C
• MyVariant Identifiers: chr15:g.72638135A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345794A>C , CM000677.2:g.72345794A>C	GRCh38
NC_000015.9:g.72638135A>C , CM000677.1:g.72638135A>C	GRCh37
NC_000015.8:g.70425189A>C	NCBI36
NG_009017.1:g.35386T>G
NG_009017.2:g.35386T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-244T>G	ENSP00000457521.2:n.*82-244T>G
ENST00000682061.1:c.*1524T>G	ENSP00000508316.1:n.*1524T>G
ENST00000682064.1:n.1405T>G
ENST00000682177.1:c.1465-244T>G	ENSP00000507409.1:n.1465-244T>G
ENST00000682235.1:n.1201T>G
ENST00000682461.1:c.1528-244T>G	ENSP00000507308.1:n.1528-244T>G
ENST00000682653.1:n.2182T>G
ENST00000682657.1:c.*1015T>G	ENSP00000507753.1:n.*1015T>G
ENST00000682721.1:c.*1225-244T>G	ENSP00000507535.1:n.*1225-244T>G
ENST00000682843.1:c.*1063-244T>G	ENSP00000508173.1:n.*1063-244T>G
ENST00000683003.1:c.*1015T>G	ENSP00000507576.1:n.*1015T>G
ENST00000683133.1:c.1606-244T>G	ENSP00000508108.1:n.1606-244T>G
ENST00000683243.1:c.*575-244T>G	ENSP00000507042.1:n.*575-244T>G
ENST00000683463.1:c.*667T>G	ENSP00000507986.1:n.*667T>G
ENST00000683548.1:n.1636T>G
ENST00000683579.1:c.*1320-244T>G	ENSP00000506867.1:n.*1320-244T>G
ENST00000683587.1:n.1709T>G
ENST00000683681.1:c.1422-18T>G	ENSP00000508110.1:n.1422-18T>G
ENST00000683735.1:c.*1576T>G	ENSP00000508336.1:n.*1576T>G
ENST00000683853.1:c.*227-244T>G	ENSP00000506834.1:n.*227-244T>G
ENST00000683860.1:c.*298T>G	ENSP00000507179.1:n.*298T>G
ENST00000683884.1:c.*505T>G	ENSP00000507004.1:n.*505T>G
ENST00000684041.1:c.*437T>G	ENSP00000508382.1:n.*437T>G
ENST00000684125.1:c.*82-244T>G	ENSP00000507320.1:n.*82-244T>G
ENST00000684203.1:n.3627T>G
ENST00000684231.1:c.*832-244T>G	ENSP00000507748.1:n.*832-244T>G
ENST00000684263.1:c.*802T>G	ENSP00000508369.1:n.*802T>G
ENST00000684305.1:c.1870-244T>G	ENSP00000506819.1:n.1870-244T>G
ENST00000684415.1:c.*729T>G	ENSP00000507227.1:n.*729T>G
ENST00000684520.1:c.*437T>G	ENSP00000506826.1:n.*437T>G
ENST00000684602.1:c.*1088-244T>G	ENSP00000507996.1:n.*1088-244T>G
ENST00000684667.1:c.1753-244T>G	ENSP00000507003.1:n.1753-244T>G
ENST00000268097.10:c.1422-244T>G MANE Select	ENSP00000268097.6:n.1422-244T>G
ENST00000268097.9:c.1422-244T>G	ENSP00000268097.5:n.1422-244T>G
ENST00000379915.4:c.504-244T>G	ENSP00000478716.1:n.504-244T>G
ENST00000564677.5:n.96T>G
ENST00000565873.1:n.89T>G
ENST00000566304.5:c.1455-244T>G	ENSP00000455114.1:n.1455-244T>G
ENST00000567027.5:c.1037-244T>G
ENST00000567159.5:c.1422-244T>G	ENSP00000456489.1:n.1422-244T>G
ENST00000567411.5:c.*943-244T>G	ENSP00000455545.1:n.*943-244T>G
ENST00000568777.5:n.6642-244T>G
ENST00000569116.1:n.11T>G
NM_000520.4:c.1422-244T>G	NP_000511.2:n.1422-244T>G
NM_000520.5:c.1422-244T>G	NP_000511.2:n.1422-244T>G
NM_001318825.1:c.1455-244T>G	NP_001305754.1:n.1455-244T>G
NR_134869.1:n.1666-244T>G
NM_000520.6:c.1422-244T>G MANE Select	NP_000511.2:n.1422-244T>G
NM_001318825.2:c.1455-244T>G	NP_001305754.1:n.1455-244T>G
NR_134869.2:n.1207-244T>G
NR_134869.3:n.1207-244T>G