Canonical Allele Identifier: CA2629339712

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343650-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343650A>C , CM000677.2:g.72343650A>C	GRCh38
NC_000015.9:g.72635991A>C , CM000677.1:g.72635991A>C	GRCh37
NC_000015.8:g.70423045A>C	NCBI36
NG_009017.1:g.37530T>G
NG_009017.2:g.37530T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2244T>G
ENST00000682235.1:n.2040T>G
ENST00000682461.1:c.2123T>G	ENSP00000507308.1:n.2123T>G
ENST00000682653.1:n.4326T>G
ENST00000682721.1:c.*1820T>G	ENSP00000507535.1:n.*1820T>G
ENST00000682843.1:c.*1658T>G	ENSP00000508173.1:n.*1658T>G
ENST00000683133.1:c.2201T>G	ENSP00000508108.1:n.2201T>G
ENST00000683243.1:c.*1170T>G	ENSP00000507042.1:n.*1170T>G
ENST00000683463.1:c.*1506T>G	ENSP00000507986.1:n.*1506T>G
ENST00000683548.1:n.2475T>G
ENST00000683579.1:c.*1915T>G	ENSP00000506867.1:n.*1915T>G
ENST00000683587.1:n.2548T>G
ENST00000683735.1:c.*2415T>G	ENSP00000508336.1:n.*2415T>G
ENST00000683853.1:c.*2127T>G	ENSP00000506834.1:n.*2127T>G
ENST00000684125.1:c.*677T>G	ENSP00000507320.1:n.*677T>G
ENST00000684203.1:n.4466T>G
ENST00000684231.1:c.*1427T>G	ENSP00000507748.1:n.*1427T>G
ENST00000684263.1:c.*1641T>G	ENSP00000508369.1:n.*1641T>G
ENST00000684305.1:c.2465T>G	ENSP00000506819.1:n.2465T>G
ENST00000684602.1:c.*1683T>G	ENSP00000507996.1:n.*1683T>G
ENST00000684667.1:c.2348T>G	ENSP00000507003.1:n.2348T>G
ENST00000268097.10:c.*427T>G MANE Select	ENSP00000268097.6:n.*427T>G
ENST00000268097.9:c.*427T>G	ENSP00000268097.5:n.*427T>G
ENST00000379915.4:c.608+1796T>G	ENSP00000478716.1:n.608+1796T>G
NM_000520.4:c.*427T>G	NP_000511.2:n.*427T>G
NM_000520.5:c.*427T>G	NP_000511.2:n.*427T>G
NM_001318825.1:c.*427T>G	NP_001305754.1:n.*427T>G
NM_000520.6:c.*427T>G MANE Select	NP_000511.2:n.*427T>G
NM_001318825.2:c.*427T>G	NP_001305754.1:n.*427T>G