Canonical Allele Identifier: CA2629339481

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343471-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343471A>G , CM000677.2:g.72343471A>G	GRCh38
NC_000015.9:g.72635812A>G , CM000677.1:g.72635812A>G	GRCh37
NC_000015.8:g.70422866A>G	NCBI36
NG_009017.1:g.37709T>C
NG_009017.2:g.37709T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2423T>C
ENST00000682235.1:n.2219T>C
ENST00000682461.1:c.2302T>C	ENSP00000507308.1:n.2302T>C
ENST00000682653.1:n.4505T>C
ENST00000682721.1:c.*1999T>C	ENSP00000507535.1:n.*1999T>C
ENST00000682843.1:c.*1837T>C	ENSP00000508173.1:n.*1837T>C
ENST00000683133.1:c.2380T>C	ENSP00000508108.1:n.2380T>C
ENST00000683243.1:c.*1349T>C	ENSP00000507042.1:n.*1349T>C
ENST00000683463.1:c.*1685T>C	ENSP00000507986.1:n.*1685T>C
ENST00000683548.1:n.2654T>C
ENST00000683579.1:c.*2094T>C	ENSP00000506867.1:n.*2094T>C
ENST00000683587.1:n.2727T>C
ENST00000683735.1:c.*2594T>C	ENSP00000508336.1:n.*2594T>C
ENST00000683853.1:c.*2306T>C	ENSP00000506834.1:n.*2306T>C
ENST00000684125.1:c.*856T>C	ENSP00000507320.1:n.*856T>C
ENST00000684203.1:n.4645T>C
ENST00000684231.1:c.*1606T>C	ENSP00000507748.1:n.*1606T>C
ENST00000684263.1:c.*1820T>C	ENSP00000508369.1:n.*1820T>C
ENST00000684305.1:c.2644T>C	ENSP00000506819.1:n.2644T>C
ENST00000684602.1:c.*1862T>C	ENSP00000507996.1:n.*1862T>C
ENST00000684667.1:c.2527T>C	ENSP00000507003.1:n.2527T>C
ENST00000268097.10:c.*606T>C MANE Select	ENSP00000268097.6:n.*606T>C
ENST00000268097.9:c.*606T>C	ENSP00000268097.5:n.*606T>C
ENST00000379915.4:c.608+1975T>C	ENSP00000478716.1:n.608+1975T>C
NM_000520.4:c.*606T>C	NP_000511.2:n.*606T>C
NM_000520.5:c.*606T>C	NP_000511.2:n.*606T>C
NM_001318825.1:c.*606T>C	NP_001305754.1:n.*606T>C
NM_000520.6:c.*606T>C MANE Select	NP_000511.2:n.*606T>C
NM_001318825.2:c.*606T>C	NP_001305754.1:n.*606T>C