Canonical Allele Identifier: CA2629344072

Gene: HEXA

Linked Data

• gnomAD v4: 15-72355656-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355656G>C , CM000677.2:g.72355656G>C	GRCh38
NC_000015.9:g.72647997G>C , CM000677.1:g.72647997G>C	GRCh37
NC_000015.8:g.70435051G>C	NCBI36
NG_009017.1:g.25524C>G
NG_009017.2:g.25524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.360-32C>G
ENST00000567027.6:c.347-32C>G	ENSP00000457521.2:n.347-32C>G
ENST00000568260.2:c.414-32C>G	ENSP00000458128.2:n.414-32C>G
ENST00000682061.1:c.*9-32C>G	ENSP00000508316.1:n.*9-32C>G
ENST00000682177.1:c.347-32C>G	ENSP00000507409.1:n.347-32C>G
ENST00000682461.1:c.611-32C>G	ENSP00000507308.1:n.611-32C>G
ENST00000682653.1:n.378-32C>G
ENST00000682657.1:c.254-4422C>G	ENSP00000507753.1:n.254-4422C>G
ENST00000682721.1:c.*150-32C>G	ENSP00000507535.1:n.*150-32C>G
ENST00000682843.1:c.*245-32C>G	ENSP00000508173.1:n.*245-32C>G
ENST00000683003.1:c.347-32C>G	ENSP00000507576.1:n.347-32C>G
ENST00000683133.1:c.531-32C>G	ENSP00000508108.1:n.531-32C>G
ENST00000683228.1:n.378-32C>G
ENST00000683243.1:c.347-32C>G	ENSP00000507042.1:n.347-32C>G
ENST00000683463.1:c.347-32C>G	ENSP00000507986.1:n.347-32C>G
ENST00000683548.1:n.378-32C>G
ENST00000683579.1:c.*245-32C>G	ENSP00000506867.1:n.*245-32C>G
ENST00000683587.1:n.378-32C>G
ENST00000683681.1:c.347-32C>G	ENSP00000508110.1:n.347-32C>G
ENST00000683735.1:c.*245-32C>G	ENSP00000508336.1:n.*245-32C>G
ENST00000683853.1:c.347-32C>G	ENSP00000506834.1:n.347-32C>G
ENST00000683860.1:c.347-32C>G	ENSP00000507179.1:n.347-32C>G
ENST00000683884.1:c.347-32C>G	ENSP00000507004.1:n.347-32C>G
ENST00000684041.1:c.347-32C>G	ENSP00000508382.1:n.347-32C>G
ENST00000684125.1:c.347-32C>G	ENSP00000507320.1:n.347-32C>G
ENST00000684203.1:n.364-32C>G
ENST00000684231.1:c.347-32C>G	ENSP00000507748.1:n.347-32C>G
ENST00000684263.1:c.347-32C>G	ENSP00000508369.1:n.347-32C>G
ENST00000684305.1:c.795-32C>G	ENSP00000506819.1:n.795-32C>G
ENST00000684415.1:c.347-32C>G	ENSP00000507227.1:n.347-32C>G
ENST00000684520.1:c.347-32C>G	ENSP00000506826.1:n.347-32C>G
ENST00000684602.1:c.*171-32C>G	ENSP00000507996.1:n.*171-32C>G
ENST00000684667.1:c.678-32C>G	ENSP00000507003.1:n.678-32C>G
ENST00000268097.10:c.347-32C>G MANE Select	ENSP00000268097.6:n.347-32C>G
ENST00000268097.9:c.347-32C>G	ENSP00000268097.5:n.347-32C>G
ENST00000379915.4:c.347-32C>G	ENSP00000478716.1:n.347-32C>G
ENST00000563762.5:c.438-32C>G	ENSP00000456346.1:n.438-32C>G
ENST00000563908.1:n.344-32C>G
ENST00000566304.5:c.380-32C>G	ENSP00000455114.1:n.380-32C>G
ENST00000566672.5:c.347-32C>G	ENSP00000457037.1:n.347-32C>G
ENST00000567027.5:c.219-32C>G
ENST00000567159.5:c.347-32C>G	ENSP00000456489.1:n.347-32C>G
ENST00000567411.5:c.347-32C>G	ENSP00000455545.1:n.347-32C>G
ENST00000568260.1:c.395-32C>G
ENST00000568777.5:n.3930-32C>G
ENST00000569410.5:c.347-32C>G	ENSP00000457125.1:n.347-32C>G
ENST00000569509.5:n.352-32C>G
NM_000520.4:c.347-32C>G	NP_000511.2:n.347-32C>G
NM_000520.5:c.347-32C>G	NP_000511.2:n.347-32C>G
NM_001318825.1:c.380-32C>G	NP_001305754.1:n.380-32C>G
NR_134869.1:n.848-32C>G
NM_000520.6:c.347-32C>G MANE Select	NP_000511.2:n.347-32C>G
NM_001318825.2:c.380-32C>G	NP_001305754.1:n.380-32C>G
NR_134869.2:n.389-32C>G
NR_134869.3:n.389-32C>G