Canonical Allele Identifier: CA2629339588

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343554-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343554A>G , CM000677.2:g.72343554A>G	GRCh38
NC_000015.9:g.72635895A>G , CM000677.1:g.72635895A>G	GRCh37
NC_000015.8:g.70422949A>G	NCBI36
NG_009017.1:g.37626T>C
NG_009017.2:g.37626T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2340T>C
ENST00000682235.1:n.2136T>C
ENST00000682461.1:c.2219T>C	ENSP00000507308.1:n.2219T>C
ENST00000682653.1:n.4422T>C
ENST00000682721.1:c.*1916T>C	ENSP00000507535.1:n.*1916T>C
ENST00000682843.1:c.*1754T>C	ENSP00000508173.1:n.*1754T>C
ENST00000683133.1:c.2297T>C	ENSP00000508108.1:n.2297T>C
ENST00000683243.1:c.*1266T>C	ENSP00000507042.1:n.*1266T>C
ENST00000683463.1:c.*1602T>C	ENSP00000507986.1:n.*1602T>C
ENST00000683548.1:n.2571T>C
ENST00000683579.1:c.*2011T>C	ENSP00000506867.1:n.*2011T>C
ENST00000683587.1:n.2644T>C
ENST00000683735.1:c.*2511T>C	ENSP00000508336.1:n.*2511T>C
ENST00000683853.1:c.*2223T>C	ENSP00000506834.1:n.*2223T>C
ENST00000684125.1:c.*773T>C	ENSP00000507320.1:n.*773T>C
ENST00000684203.1:n.4562T>C
ENST00000684231.1:c.*1523T>C	ENSP00000507748.1:n.*1523T>C
ENST00000684263.1:c.*1737T>C	ENSP00000508369.1:n.*1737T>C
ENST00000684305.1:c.2561T>C	ENSP00000506819.1:n.2561T>C
ENST00000684602.1:c.*1779T>C	ENSP00000507996.1:n.*1779T>C
ENST00000684667.1:c.2444T>C	ENSP00000507003.1:n.2444T>C
ENST00000268097.10:c.*523T>C MANE Select	ENSP00000268097.6:n.*523T>C
ENST00000268097.9:c.*523T>C	ENSP00000268097.5:n.*523T>C
ENST00000379915.4:c.608+1892T>C	ENSP00000478716.1:n.608+1892T>C
NM_000520.4:c.*523T>C	NP_000511.2:n.*523T>C
NM_000520.5:c.*523T>C	NP_000511.2:n.*523T>C
NM_001318825.1:c.*523T>C	NP_001305754.1:n.*523T>C
NM_000520.6:c.*523T>C MANE Select	NP_000511.2:n.*523T>C
NM_001318825.2:c.*523T>C	NP_001305754.1:n.*523T>C