Canonical Allele Identifier: CA971350654

Gene: HEXA

Linked Data

• dbSNP Id: rs2088591621
• gnomAD v3: 15-72345047-G-T
• gnomAD v4: 15-72345047-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345047G>T , CM000677.2:g.72345047G>T	GRCh38
NC_000015.9:g.72637388G>T , CM000677.1:g.72637388G>T	GRCh37
NC_000015.8:g.70424442G>T	NCBI36
NG_009017.1:g.36133C>A
NG_009017.2:g.36133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+399C>A
ENST00000682235.1:n.1549+399C>A
ENST00000682461.1:c.1632+399C>A	ENSP00000507308.1:n.1632+399C>A
ENST00000682653.1:n.2929C>A
ENST00000682721.1:c.*1329+399C>A	ENSP00000507535.1:n.*1329+399C>A
ENST00000682843.1:c.*1167+399C>A	ENSP00000508173.1:n.*1167+399C>A
ENST00000683133.1:c.1710+399C>A	ENSP00000508108.1:n.1710+399C>A
ENST00000683243.1:c.*679+399C>A	ENSP00000507042.1:n.*679+399C>A
ENST00000683463.1:c.*1015+399C>A	ENSP00000507986.1:n.*1015+399C>A
ENST00000683548.1:n.1984+399C>A
ENST00000683579.1:c.*1424+399C>A	ENSP00000506867.1:n.*1424+399C>A
ENST00000683587.1:n.2057+399C>A
ENST00000683681.1:c.*204+399C>A	ENSP00000508110.1:n.*204+399C>A
ENST00000683735.1:c.*1924+399C>A	ENSP00000508336.1:n.*1924+399C>A
ENST00000683853.1:c.*730C>A	ENSP00000506834.1:n.*730C>A
ENST00000683860.1:c.*646+399C>A	ENSP00000507179.1:n.*646+399C>A
ENST00000684125.1:c.*186+399C>A	ENSP00000507320.1:n.*186+399C>A
ENST00000684203.1:n.3975+399C>A
ENST00000684231.1:c.*936+399C>A	ENSP00000507748.1:n.*936+399C>A
ENST00000684263.1:c.*1150+399C>A	ENSP00000508369.1:n.*1150+399C>A
ENST00000684305.1:c.1974+399C>A	ENSP00000506819.1:n.1974+399C>A
ENST00000684602.1:c.*1192+399C>A	ENSP00000507996.1:n.*1192+399C>A
ENST00000684667.1:c.1857+399C>A	ENSP00000507003.1:n.1857+399C>A
ENST00000268097.10:c.1526+399C>A MANE Select	ENSP00000268097.6:n.1526+399C>A
ENST00000268097.9:c.1526+399C>A	ENSP00000268097.5:n.1526+399C>A
ENST00000379915.4:c.608+399C>A	ENSP00000478716.1:n.608+399C>A
ENST00000564677.5:n.318+399C>A
ENST00000565873.1:n.437+399C>A
ENST00000566304.5:c.1559+399C>A	ENSP00000455114.1:n.1559+399C>A
ENST00000567411.5:c.*1047+399C>A	ENSP00000455545.1:n.*1047+399C>A
NM_000520.4:c.1526+399C>A	NP_000511.2:n.1526+399C>A
NM_000520.5:c.1526+399C>A	NP_000511.2:n.1526+399C>A
NM_001318825.1:c.1559+399C>A	NP_001305754.1:n.1559+399C>A
NM_000520.6:c.1526+399C>A MANE Select	NP_000511.2:n.1526+399C>A
NM_001318825.2:c.1559+399C>A	NP_001305754.1:n.1559+399C>A