Canonical Allele Identifier: CA2629339570

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343543-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343543G>A , CM000677.2:g.72343543G>A	GRCh38
NC_000015.9:g.72635884G>A , CM000677.1:g.72635884G>A	GRCh37
NC_000015.8:g.70422938G>A	NCBI36
NG_009017.1:g.37637C>T
NG_009017.2:g.37637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2351C>T
ENST00000682235.1:n.2147C>T
ENST00000682461.1:c.2230C>T	ENSP00000507308.1:n.2230C>T
ENST00000682653.1:n.4433C>T
ENST00000682721.1:c.*1927C>T	ENSP00000507535.1:n.*1927C>T
ENST00000682843.1:c.*1765C>T	ENSP00000508173.1:n.*1765C>T
ENST00000683133.1:c.2308C>T	ENSP00000508108.1:n.2308C>T
ENST00000683243.1:c.*1277C>T	ENSP00000507042.1:n.*1277C>T
ENST00000683463.1:c.*1613C>T	ENSP00000507986.1:n.*1613C>T
ENST00000683548.1:n.2582C>T
ENST00000683579.1:c.*2022C>T	ENSP00000506867.1:n.*2022C>T
ENST00000683587.1:n.2655C>T
ENST00000683735.1:c.*2522C>T	ENSP00000508336.1:n.*2522C>T
ENST00000683853.1:c.*2234C>T	ENSP00000506834.1:n.*2234C>T
ENST00000684125.1:c.*784C>T	ENSP00000507320.1:n.*784C>T
ENST00000684203.1:n.4573C>T
ENST00000684231.1:c.*1534C>T	ENSP00000507748.1:n.*1534C>T
ENST00000684263.1:c.*1748C>T	ENSP00000508369.1:n.*1748C>T
ENST00000684305.1:c.2572C>T	ENSP00000506819.1:n.2572C>T
ENST00000684602.1:c.*1790C>T	ENSP00000507996.1:n.*1790C>T
ENST00000684667.1:c.2455C>T	ENSP00000507003.1:n.2455C>T
ENST00000268097.10:c.*534C>T MANE Select	ENSP00000268097.6:n.*534C>T
ENST00000268097.9:c.*534C>T	ENSP00000268097.5:n.*534C>T
ENST00000379915.4:c.608+1903C>T	ENSP00000478716.1:n.608+1903C>T
NM_000520.4:c.*534C>T	NP_000511.2:n.*534C>T
NM_000520.5:c.*534C>T	NP_000511.2:n.*534C>T
NM_001318825.1:c.*534C>T	NP_001305754.1:n.*534C>T
NM_000520.6:c.*534C>T MANE Select	NP_000511.2:n.*534C>T
NM_001318825.2:c.*534C>T	NP_001305754.1:n.*534C>T