Canonical Allele Identifier: CA2629339744

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343691-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343691A>G , CM000677.2:g.72343691A>G	GRCh38
NC_000015.9:g.72636032A>G , CM000677.1:g.72636032A>G	GRCh37
NC_000015.8:g.70423086A>G	NCBI36
NG_009017.1:g.37489T>C
NG_009017.2:g.37489T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2203T>C
ENST00000682235.1:n.1999T>C
ENST00000682461.1:c.2082T>C	ENSP00000507308.1:n.2082T>C
ENST00000682653.1:n.4285T>C
ENST00000682721.1:c.*1779T>C	ENSP00000507535.1:n.*1779T>C
ENST00000682843.1:c.*1617T>C	ENSP00000508173.1:n.*1617T>C
ENST00000683133.1:c.2160T>C	ENSP00000508108.1:n.2160T>C
ENST00000683243.1:c.*1129T>C	ENSP00000507042.1:n.*1129T>C
ENST00000683463.1:c.*1465T>C	ENSP00000507986.1:n.*1465T>C
ENST00000683548.1:n.2434T>C
ENST00000683579.1:c.*1874T>C	ENSP00000506867.1:n.*1874T>C
ENST00000683587.1:n.2507T>C
ENST00000683735.1:c.*2374T>C	ENSP00000508336.1:n.*2374T>C
ENST00000683853.1:c.*2086T>C	ENSP00000506834.1:n.*2086T>C
ENST00000684125.1:c.*636T>C	ENSP00000507320.1:n.*636T>C
ENST00000684203.1:n.4425T>C
ENST00000684231.1:c.*1386T>C	ENSP00000507748.1:n.*1386T>C
ENST00000684263.1:c.*1600T>C	ENSP00000508369.1:n.*1600T>C
ENST00000684305.1:c.2424T>C	ENSP00000506819.1:n.2424T>C
ENST00000684602.1:c.*1642T>C	ENSP00000507996.1:n.*1642T>C
ENST00000684667.1:c.2307T>C	ENSP00000507003.1:n.2307T>C
ENST00000268097.10:c.*386T>C MANE Select	ENSP00000268097.6:n.*386T>C
ENST00000268097.9:c.*386T>C	ENSP00000268097.5:n.*386T>C
ENST00000379915.4:c.608+1755T>C	ENSP00000478716.1:n.608+1755T>C
NM_000520.4:c.*386T>C	NP_000511.2:n.*386T>C
NM_000520.5:c.*386T>C	NP_000511.2:n.*386T>C
NM_001318825.1:c.*386T>C	NP_001305754.1:n.*386T>C
NM_000520.6:c.*386T>C MANE Select	NP_000511.2:n.*386T>C
NM_001318825.2:c.*386T>C	NP_001305754.1:n.*386T>C