Canonical Allele Identifier: CA2629339707

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343643-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343643C>A , CM000677.2:g.72343643C>A	GRCh38
NC_000015.9:g.72635984C>A , CM000677.1:g.72635984C>A	GRCh37
NC_000015.8:g.70423038C>A	NCBI36
NG_009017.1:g.37537G>T
NG_009017.2:g.37537G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2251G>T
ENST00000682235.1:n.2047G>T
ENST00000682461.1:c.2130G>T	ENSP00000507308.1:n.2130G>T
ENST00000682653.1:n.4333G>T
ENST00000682721.1:c.*1827G>T	ENSP00000507535.1:n.*1827G>T
ENST00000682843.1:c.*1665G>T	ENSP00000508173.1:n.*1665G>T
ENST00000683133.1:c.2208G>T	ENSP00000508108.1:n.2208G>T
ENST00000683243.1:c.*1177G>T	ENSP00000507042.1:n.*1177G>T
ENST00000683463.1:c.*1513G>T	ENSP00000507986.1:n.*1513G>T
ENST00000683548.1:n.2482G>T
ENST00000683579.1:c.*1922G>T	ENSP00000506867.1:n.*1922G>T
ENST00000683587.1:n.2555G>T
ENST00000683735.1:c.*2422G>T	ENSP00000508336.1:n.*2422G>T
ENST00000683853.1:c.*2134G>T	ENSP00000506834.1:n.*2134G>T
ENST00000684125.1:c.*684G>T	ENSP00000507320.1:n.*684G>T
ENST00000684203.1:n.4473G>T
ENST00000684231.1:c.*1434G>T	ENSP00000507748.1:n.*1434G>T
ENST00000684263.1:c.*1648G>T	ENSP00000508369.1:n.*1648G>T
ENST00000684305.1:c.2472G>T	ENSP00000506819.1:n.2472G>T
ENST00000684602.1:c.*1690G>T	ENSP00000507996.1:n.*1690G>T
ENST00000684667.1:c.2355G>T	ENSP00000507003.1:n.2355G>T
ENST00000268097.10:c.*434G>T MANE Select	ENSP00000268097.6:n.*434G>T
ENST00000268097.9:c.*434G>T	ENSP00000268097.5:n.*434G>T
ENST00000379915.4:c.608+1803G>T	ENSP00000478716.1:n.608+1803G>T
NM_000520.4:c.*434G>T	NP_000511.2:n.*434G>T
NM_000520.5:c.*434G>T	NP_000511.2:n.*434G>T
NM_001318825.1:c.*434G>T	NP_001305754.1:n.*434G>T
NM_000520.6:c.*434G>T MANE Select	NP_000511.2:n.*434G>T
NM_001318825.2:c.*434G>T	NP_001305754.1:n.*434G>T