Canonical Allele Identifier: CA971350434

Gene: HEXA

Linked Data

• dbSNP Id: rs2088573481
• gnomAD v3: 15-72343548-G-A
• gnomAD v4: 15-72343548-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343548G>A , CM000677.2:g.72343548G>A	GRCh38
NC_000015.9:g.72635889G>A , CM000677.1:g.72635889G>A	GRCh37
NC_000015.8:g.70422943G>A	NCBI36
NG_009017.1:g.37632C>T
NG_009017.2:g.37632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2346C>T
ENST00000682235.1:n.2142C>T
ENST00000682461.1:c.2225C>T	ENSP00000507308.1:n.2225C>T
ENST00000682653.1:n.4428C>T
ENST00000682721.1:c.*1922C>T	ENSP00000507535.1:n.*1922C>T
ENST00000682843.1:c.*1760C>T	ENSP00000508173.1:n.*1760C>T
ENST00000683133.1:c.2303C>T	ENSP00000508108.1:n.2303C>T
ENST00000683243.1:c.*1272C>T	ENSP00000507042.1:n.*1272C>T
ENST00000683463.1:c.*1608C>T	ENSP00000507986.1:n.*1608C>T
ENST00000683548.1:n.2577C>T
ENST00000683579.1:c.*2017C>T	ENSP00000506867.1:n.*2017C>T
ENST00000683587.1:n.2650C>T
ENST00000683735.1:c.*2517C>T	ENSP00000508336.1:n.*2517C>T
ENST00000683853.1:c.*2229C>T	ENSP00000506834.1:n.*2229C>T
ENST00000684125.1:c.*779C>T	ENSP00000507320.1:n.*779C>T
ENST00000684203.1:n.4568C>T
ENST00000684231.1:c.*1529C>T	ENSP00000507748.1:n.*1529C>T
ENST00000684263.1:c.*1743C>T	ENSP00000508369.1:n.*1743C>T
ENST00000684305.1:c.2567C>T	ENSP00000506819.1:n.2567C>T
ENST00000684602.1:c.*1785C>T	ENSP00000507996.1:n.*1785C>T
ENST00000684667.1:c.2450C>T	ENSP00000507003.1:n.2450C>T
ENST00000268097.10:c.*529C>T MANE Select	ENSP00000268097.6:n.*529C>T
ENST00000268097.9:c.*529C>T	ENSP00000268097.5:n.*529C>T
ENST00000379915.4:c.608+1898C>T	ENSP00000478716.1:n.608+1898C>T
NM_000520.4:c.*529C>T	NP_000511.2:n.*529C>T
NM_000520.5:c.*529C>T	NP_000511.2:n.*529C>T
NM_001318825.1:c.*529C>T	NP_001305754.1:n.*529C>T
NM_000520.6:c.*529C>T MANE Select	NP_000511.2:n.*529C>T
NM_001318825.2:c.*529C>T	NP_001305754.1:n.*529C>T