Canonical Allele Identifier: CA491112545

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345680-G-C
• MyVariant Identifiers: chr15:g.72638021G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345680G>C , CM000677.2:g.72345680G>C	GRCh38
NC_000015.9:g.72638021G>C , CM000677.1:g.72638021G>C	GRCh37
NC_000015.8:g.70425075G>C	NCBI36
NG_009017.1:g.35500C>G
NG_009017.2:g.35500C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-130C>G	ENSP00000457521.2:n.*82-130C>G
ENST00000682061.1:c.*1638C>G	ENSP00000508316.1:n.*1638C>G
ENST00000682064.1:n.1519C>G
ENST00000682177.1:c.1465-130C>G	ENSP00000507409.1:n.1465-130C>G
ENST00000682235.1:n.1315C>G
ENST00000682461.1:c.1528-130C>G	ENSP00000507308.1:n.1528-130C>G
ENST00000682653.1:n.2296C>G
ENST00000682657.1:c.*1129C>G	ENSP00000507753.1:n.*1129C>G
ENST00000682721.1:c.*1225-130C>G	ENSP00000507535.1:n.*1225-130C>G
ENST00000682843.1:c.*1063-130C>G	ENSP00000508173.1:n.*1063-130C>G
ENST00000683003.1:c.*1129C>G	ENSP00000507576.1:n.*1129C>G
ENST00000683133.1:c.1606-130C>G	ENSP00000508108.1:n.1606-130C>G
ENST00000683243.1:c.*575-130C>G	ENSP00000507042.1:n.*575-130C>G
ENST00000683463.1:c.*781C>G	ENSP00000507986.1:n.*781C>G
ENST00000683548.1:n.1750C>G
ENST00000683579.1:c.*1320-130C>G	ENSP00000506867.1:n.*1320-130C>G
ENST00000683587.1:n.1823C>G
ENST00000683681.1:c.*96C>G	ENSP00000508110.1:n.*96C>G
ENST00000683735.1:c.*1690C>G	ENSP00000508336.1:n.*1690C>G
ENST00000683853.1:c.*227-130C>G	ENSP00000506834.1:n.*227-130C>G
ENST00000683860.1:c.*412C>G	ENSP00000507179.1:n.*412C>G
ENST00000683884.1:c.*619C>G	ENSP00000507004.1:n.*619C>G
ENST00000684041.1:c.*551C>G	ENSP00000508382.1:n.*551C>G
ENST00000684125.1:c.*82-130C>G	ENSP00000507320.1:n.*82-130C>G
ENST00000684203.1:n.3741C>G
ENST00000684231.1:c.*832-130C>G	ENSP00000507748.1:n.*832-130C>G
ENST00000684263.1:c.*916C>G	ENSP00000508369.1:n.*916C>G
ENST00000684305.1:c.1870-130C>G	ENSP00000506819.1:n.1870-130C>G
ENST00000684415.1:c.*843C>G	ENSP00000507227.1:n.*843C>G
ENST00000684520.1:c.*551C>G	ENSP00000506826.1:n.*551C>G
ENST00000684602.1:c.*1088-130C>G	ENSP00000507996.1:n.*1088-130C>G
ENST00000684667.1:c.1753-130C>G	ENSP00000507003.1:n.1753-130C>G
ENST00000268097.10:c.1422-130C>G MANE Select	ENSP00000268097.6:n.1422-130C>G
ENST00000268097.9:c.1422-130C>G	ENSP00000268097.5:n.1422-130C>G
ENST00000379915.4:c.504-130C>G	ENSP00000478716.1:n.504-130C>G
ENST00000564677.5:n.210C>G
ENST00000565873.1:n.203C>G
ENST00000566304.5:c.1455-130C>G	ENSP00000455114.1:n.1455-130C>G
ENST00000567027.5:c.1037-130C>G
ENST00000567159.5:c.1422-130C>G	ENSP00000456489.1:n.1422-130C>G
ENST00000567411.5:c.*943-130C>G	ENSP00000455545.1:n.*943-130C>G
ENST00000568777.5:n.6642-130C>G
ENST00000569116.1:n.125C>G
NM_000520.4:c.1422-130C>G	NP_000511.2:n.1422-130C>G
NM_000520.5:c.1422-130C>G	NP_000511.2:n.1422-130C>G
NM_001318825.1:c.1455-130C>G	NP_001305754.1:n.1455-130C>G
NR_134869.1:n.1666-130C>G
NM_000520.6:c.1422-130C>G MANE Select	NP_000511.2:n.1422-130C>G
NM_001318825.2:c.1455-130C>G	NP_001305754.1:n.1455-130C>G
NR_134869.2:n.1207-130C>G
NR_134869.3:n.1207-130C>G