Canonical Allele Identifier: CA2629339730

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343675-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343675G>T , CM000677.2:g.72343675G>T	GRCh38
NC_000015.9:g.72636016G>T , CM000677.1:g.72636016G>T	GRCh37
NC_000015.8:g.70423070G>T	NCBI36
NG_009017.1:g.37505C>A
NG_009017.2:g.37505C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2219C>A
ENST00000682235.1:n.2015C>A
ENST00000682461.1:c.2098C>A	ENSP00000507308.1:n.2098C>A
ENST00000682653.1:n.4301C>A
ENST00000682721.1:c.*1795C>A	ENSP00000507535.1:n.*1795C>A
ENST00000682843.1:c.*1633C>A	ENSP00000508173.1:n.*1633C>A
ENST00000683133.1:c.2176C>A	ENSP00000508108.1:n.2176C>A
ENST00000683243.1:c.*1145C>A	ENSP00000507042.1:n.*1145C>A
ENST00000683463.1:c.*1481C>A	ENSP00000507986.1:n.*1481C>A
ENST00000683548.1:n.2450C>A
ENST00000683579.1:c.*1890C>A	ENSP00000506867.1:n.*1890C>A
ENST00000683587.1:n.2523C>A
ENST00000683735.1:c.*2390C>A	ENSP00000508336.1:n.*2390C>A
ENST00000683853.1:c.*2102C>A	ENSP00000506834.1:n.*2102C>A
ENST00000684125.1:c.*652C>A	ENSP00000507320.1:n.*652C>A
ENST00000684203.1:n.4441C>A
ENST00000684231.1:c.*1402C>A	ENSP00000507748.1:n.*1402C>A
ENST00000684263.1:c.*1616C>A	ENSP00000508369.1:n.*1616C>A
ENST00000684305.1:c.2440C>A	ENSP00000506819.1:n.2440C>A
ENST00000684602.1:c.*1658C>A	ENSP00000507996.1:n.*1658C>A
ENST00000684667.1:c.2323C>A	ENSP00000507003.1:n.2323C>A
ENST00000268097.10:c.*402C>A MANE Select	ENSP00000268097.6:n.*402C>A
ENST00000268097.9:c.*402C>A	ENSP00000268097.5:n.*402C>A
ENST00000379915.4:c.608+1771C>A	ENSP00000478716.1:n.608+1771C>A
NM_000520.4:c.*402C>A	NP_000511.2:n.*402C>A
NM_000520.5:c.*402C>A	NP_000511.2:n.*402C>A
NM_001318825.1:c.*402C>A	NP_001305754.1:n.*402C>A
NM_000520.6:c.*402C>A MANE Select	NP_000511.2:n.*402C>A
NM_001318825.2:c.*402C>A	NP_001305754.1:n.*402C>A