Canonical Allele Identifier: CA2629339750

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343699-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343699G>T , CM000677.2:g.72343699G>T	GRCh38
NC_000015.9:g.72636040G>T , CM000677.1:g.72636040G>T	GRCh37
NC_000015.8:g.70423094G>T	NCBI36
NG_009017.1:g.37481C>A
NG_009017.2:g.37481C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2195C>A
ENST00000682235.1:n.1991C>A
ENST00000682461.1:c.2074C>A	ENSP00000507308.1:n.2074C>A
ENST00000682653.1:n.4277C>A
ENST00000682721.1:c.*1771C>A	ENSP00000507535.1:n.*1771C>A
ENST00000682843.1:c.*1609C>A	ENSP00000508173.1:n.*1609C>A
ENST00000683133.1:c.2152C>A	ENSP00000508108.1:n.2152C>A
ENST00000683243.1:c.*1121C>A	ENSP00000507042.1:n.*1121C>A
ENST00000683463.1:c.*1457C>A	ENSP00000507986.1:n.*1457C>A
ENST00000683548.1:n.2426C>A
ENST00000683579.1:c.*1866C>A	ENSP00000506867.1:n.*1866C>A
ENST00000683587.1:n.2499C>A
ENST00000683735.1:c.*2366C>A	ENSP00000508336.1:n.*2366C>A
ENST00000683853.1:c.*2078C>A	ENSP00000506834.1:n.*2078C>A
ENST00000684125.1:c.*628C>A	ENSP00000507320.1:n.*628C>A
ENST00000684203.1:n.4417C>A
ENST00000684231.1:c.*1378C>A	ENSP00000507748.1:n.*1378C>A
ENST00000684263.1:c.*1592C>A	ENSP00000508369.1:n.*1592C>A
ENST00000684305.1:c.2416C>A	ENSP00000506819.1:n.2416C>A
ENST00000684602.1:c.*1634C>A	ENSP00000507996.1:n.*1634C>A
ENST00000684667.1:c.2299C>A	ENSP00000507003.1:n.2299C>A
ENST00000268097.10:c.*378C>A MANE Select	ENSP00000268097.6:n.*378C>A
ENST00000268097.9:c.*378C>A	ENSP00000268097.5:n.*378C>A
ENST00000379915.4:c.608+1747C>A	ENSP00000478716.1:n.608+1747C>A
NM_000520.4:c.*378C>A	NP_000511.2:n.*378C>A
NM_000520.5:c.*378C>A	NP_000511.2:n.*378C>A
NM_001318825.1:c.*378C>A	NP_001305754.1:n.*378C>A
NM_000520.6:c.*378C>A MANE Select	NP_000511.2:n.*378C>A
NM_001318825.2:c.*378C>A	NP_001305754.1:n.*378C>A