Canonical Allele Identifier: CA2629339737

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343684-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343684T>G , CM000677.2:g.72343684T>G	GRCh38
NC_000015.9:g.72636025T>G , CM000677.1:g.72636025T>G	GRCh37
NC_000015.8:g.70423079T>G	NCBI36
NG_009017.1:g.37496A>C
NG_009017.2:g.37496A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2210A>C
ENST00000682235.1:n.2006A>C
ENST00000682461.1:c.2089A>C	ENSP00000507308.1:n.2089A>C
ENST00000682653.1:n.4292A>C
ENST00000682721.1:c.*1786A>C	ENSP00000507535.1:n.*1786A>C
ENST00000682843.1:c.*1624A>C	ENSP00000508173.1:n.*1624A>C
ENST00000683133.1:c.2167A>C	ENSP00000508108.1:n.2167A>C
ENST00000683243.1:c.*1136A>C	ENSP00000507042.1:n.*1136A>C
ENST00000683463.1:c.*1472A>C	ENSP00000507986.1:n.*1472A>C
ENST00000683548.1:n.2441A>C
ENST00000683579.1:c.*1881A>C	ENSP00000506867.1:n.*1881A>C
ENST00000683587.1:n.2514A>C
ENST00000683735.1:c.*2381A>C	ENSP00000508336.1:n.*2381A>C
ENST00000683853.1:c.*2093A>C	ENSP00000506834.1:n.*2093A>C
ENST00000684125.1:c.*643A>C	ENSP00000507320.1:n.*643A>C
ENST00000684203.1:n.4432A>C
ENST00000684231.1:c.*1393A>C	ENSP00000507748.1:n.*1393A>C
ENST00000684263.1:c.*1607A>C	ENSP00000508369.1:n.*1607A>C
ENST00000684305.1:c.2431A>C	ENSP00000506819.1:n.2431A>C
ENST00000684602.1:c.*1649A>C	ENSP00000507996.1:n.*1649A>C
ENST00000684667.1:c.2314A>C	ENSP00000507003.1:n.2314A>C
ENST00000268097.10:c.*393A>C MANE Select	ENSP00000268097.6:n.*393A>C
ENST00000268097.9:c.*393A>C	ENSP00000268097.5:n.*393A>C
ENST00000379915.4:c.608+1762A>C	ENSP00000478716.1:n.608+1762A>C
NM_000520.4:c.*393A>C	NP_000511.2:n.*393A>C
NM_000520.5:c.*393A>C	NP_000511.2:n.*393A>C
NM_001318825.1:c.*393A>C	NP_001305754.1:n.*393A>C
NM_000520.6:c.*393A>C MANE Select	NP_000511.2:n.*393A>C
NM_001318825.2:c.*393A>C	NP_001305754.1:n.*393A>C