Canonical Allele Identifier: CA2629339720

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343663-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343663G>T , CM000677.2:g.72343663G>T	GRCh38
NC_000015.9:g.72636004G>T , CM000677.1:g.72636004G>T	GRCh37
NC_000015.8:g.70423058G>T	NCBI36
NG_009017.1:g.37517C>A
NG_009017.2:g.37517C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2231C>A
ENST00000682235.1:n.2027C>A
ENST00000682461.1:c.2110C>A	ENSP00000507308.1:n.2110C>A
ENST00000682653.1:n.4313C>A
ENST00000682721.1:c.*1807C>A	ENSP00000507535.1:n.*1807C>A
ENST00000682843.1:c.*1645C>A	ENSP00000508173.1:n.*1645C>A
ENST00000683133.1:c.2188C>A	ENSP00000508108.1:n.2188C>A
ENST00000683243.1:c.*1157C>A	ENSP00000507042.1:n.*1157C>A
ENST00000683463.1:c.*1493C>A	ENSP00000507986.1:n.*1493C>A
ENST00000683548.1:n.2462C>A
ENST00000683579.1:c.*1902C>A	ENSP00000506867.1:n.*1902C>A
ENST00000683587.1:n.2535C>A
ENST00000683735.1:c.*2402C>A	ENSP00000508336.1:n.*2402C>A
ENST00000683853.1:c.*2114C>A	ENSP00000506834.1:n.*2114C>A
ENST00000684125.1:c.*664C>A	ENSP00000507320.1:n.*664C>A
ENST00000684203.1:n.4453C>A
ENST00000684231.1:c.*1414C>A	ENSP00000507748.1:n.*1414C>A
ENST00000684263.1:c.*1628C>A	ENSP00000508369.1:n.*1628C>A
ENST00000684305.1:c.2452C>A	ENSP00000506819.1:n.2452C>A
ENST00000684602.1:c.*1670C>A	ENSP00000507996.1:n.*1670C>A
ENST00000684667.1:c.2335C>A	ENSP00000507003.1:n.2335C>A
ENST00000268097.10:c.*414C>A MANE Select	ENSP00000268097.6:n.*414C>A
ENST00000268097.9:c.*414C>A	ENSP00000268097.5:n.*414C>A
ENST00000379915.4:c.608+1783C>A	ENSP00000478716.1:n.608+1783C>A
NM_000520.4:c.*414C>A	NP_000511.2:n.*414C>A
NM_000520.5:c.*414C>A	NP_000511.2:n.*414C>A
NM_001318825.1:c.*414C>A	NP_001305754.1:n.*414C>A
NM_000520.6:c.*414C>A MANE Select	NP_000511.2:n.*414C>A
NM_001318825.2:c.*414C>A	NP_001305754.1:n.*414C>A