Canonical Allele Identifier: CA2629339733

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343679-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343679G>A , CM000677.2:g.72343679G>A	GRCh38
NC_000015.9:g.72636020G>A , CM000677.1:g.72636020G>A	GRCh37
NC_000015.8:g.70423074G>A	NCBI36
NG_009017.1:g.37501C>T
NG_009017.2:g.37501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2215C>T
ENST00000682235.1:n.2011C>T
ENST00000682461.1:c.2094C>T	ENSP00000507308.1:n.2094C>T
ENST00000682653.1:n.4297C>T
ENST00000682721.1:c.*1791C>T	ENSP00000507535.1:n.*1791C>T
ENST00000682843.1:c.*1629C>T	ENSP00000508173.1:n.*1629C>T
ENST00000683133.1:c.2172C>T	ENSP00000508108.1:n.2172C>T
ENST00000683243.1:c.*1141C>T	ENSP00000507042.1:n.*1141C>T
ENST00000683463.1:c.*1477C>T	ENSP00000507986.1:n.*1477C>T
ENST00000683548.1:n.2446C>T
ENST00000683579.1:c.*1886C>T	ENSP00000506867.1:n.*1886C>T
ENST00000683587.1:n.2519C>T
ENST00000683735.1:c.*2386C>T	ENSP00000508336.1:n.*2386C>T
ENST00000683853.1:c.*2098C>T	ENSP00000506834.1:n.*2098C>T
ENST00000684125.1:c.*648C>T	ENSP00000507320.1:n.*648C>T
ENST00000684203.1:n.4437C>T
ENST00000684231.1:c.*1398C>T	ENSP00000507748.1:n.*1398C>T
ENST00000684263.1:c.*1612C>T	ENSP00000508369.1:n.*1612C>T
ENST00000684305.1:c.2436C>T	ENSP00000506819.1:n.2436C>T
ENST00000684602.1:c.*1654C>T	ENSP00000507996.1:n.*1654C>T
ENST00000684667.1:c.2319C>T	ENSP00000507003.1:n.2319C>T
ENST00000268097.10:c.*398C>T MANE Select	ENSP00000268097.6:n.*398C>T
ENST00000268097.9:c.*398C>T	ENSP00000268097.5:n.*398C>T
ENST00000379915.4:c.608+1767C>T	ENSP00000478716.1:n.608+1767C>T
NM_000520.4:c.*398C>T	NP_000511.2:n.*398C>T
NM_000520.5:c.*398C>T	NP_000511.2:n.*398C>T
NM_001318825.1:c.*398C>T	NP_001305754.1:n.*398C>T
NM_000520.6:c.*398C>T MANE Select	NP_000511.2:n.*398C>T
NM_001318825.2:c.*398C>T	NP_001305754.1:n.*398C>T