Canonical Allele Identifier: CA2629339745

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343692-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343692G>T , CM000677.2:g.72343692G>T	GRCh38
NC_000015.9:g.72636033G>T , CM000677.1:g.72636033G>T	GRCh37
NC_000015.8:g.70423087G>T	NCBI36
NG_009017.1:g.37488C>A
NG_009017.2:g.37488C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2202C>A
ENST00000682235.1:n.1998C>A
ENST00000682461.1:c.2081C>A	ENSP00000507308.1:n.2081C>A
ENST00000682653.1:n.4284C>A
ENST00000682721.1:c.*1778C>A	ENSP00000507535.1:n.*1778C>A
ENST00000682843.1:c.*1616C>A	ENSP00000508173.1:n.*1616C>A
ENST00000683133.1:c.2159C>A	ENSP00000508108.1:n.2159C>A
ENST00000683243.1:c.*1128C>A	ENSP00000507042.1:n.*1128C>A
ENST00000683463.1:c.*1464C>A	ENSP00000507986.1:n.*1464C>A
ENST00000683548.1:n.2433C>A
ENST00000683579.1:c.*1873C>A	ENSP00000506867.1:n.*1873C>A
ENST00000683587.1:n.2506C>A
ENST00000683735.1:c.*2373C>A	ENSP00000508336.1:n.*2373C>A
ENST00000683853.1:c.*2085C>A	ENSP00000506834.1:n.*2085C>A
ENST00000684125.1:c.*635C>A	ENSP00000507320.1:n.*635C>A
ENST00000684203.1:n.4424C>A
ENST00000684231.1:c.*1385C>A	ENSP00000507748.1:n.*1385C>A
ENST00000684263.1:c.*1599C>A	ENSP00000508369.1:n.*1599C>A
ENST00000684305.1:c.2423C>A	ENSP00000506819.1:n.2423C>A
ENST00000684602.1:c.*1641C>A	ENSP00000507996.1:n.*1641C>A
ENST00000684667.1:c.2306C>A	ENSP00000507003.1:n.2306C>A
ENST00000268097.10:c.*385C>A MANE Select	ENSP00000268097.6:n.*385C>A
ENST00000268097.9:c.*385C>A	ENSP00000268097.5:n.*385C>A
ENST00000379915.4:c.608+1754C>A	ENSP00000478716.1:n.608+1754C>A
NM_000520.4:c.*385C>A	NP_000511.2:n.*385C>A
NM_000520.5:c.*385C>A	NP_000511.2:n.*385C>A
NM_001318825.1:c.*385C>A	NP_001305754.1:n.*385C>A
NM_000520.6:c.*385C>A MANE Select	NP_000511.2:n.*385C>A
NM_001318825.2:c.*385C>A	NP_001305754.1:n.*385C>A