Canonical Allele Identifier: CA2629339486

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343475-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343475T>G , CM000677.2:g.72343475T>G	GRCh38
NC_000015.9:g.72635816T>G , CM000677.1:g.72635816T>G	GRCh37
NC_000015.8:g.70422870T>G	NCBI36
NG_009017.1:g.37705A>C
NG_009017.2:g.37705A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2419A>C
ENST00000682235.1:n.2215A>C
ENST00000682461.1:c.2298A>C	ENSP00000507308.1:n.2298A>C
ENST00000682653.1:n.4501A>C
ENST00000682721.1:c.*1995A>C	ENSP00000507535.1:n.*1995A>C
ENST00000682843.1:c.*1833A>C	ENSP00000508173.1:n.*1833A>C
ENST00000683133.1:c.2376A>C	ENSP00000508108.1:n.2376A>C
ENST00000683243.1:c.*1345A>C	ENSP00000507042.1:n.*1345A>C
ENST00000683463.1:c.*1681A>C	ENSP00000507986.1:n.*1681A>C
ENST00000683548.1:n.2650A>C
ENST00000683579.1:c.*2090A>C	ENSP00000506867.1:n.*2090A>C
ENST00000683587.1:n.2723A>C
ENST00000683735.1:c.*2590A>C	ENSP00000508336.1:n.*2590A>C
ENST00000683853.1:c.*2302A>C	ENSP00000506834.1:n.*2302A>C
ENST00000684125.1:c.*852A>C	ENSP00000507320.1:n.*852A>C
ENST00000684203.1:n.4641A>C
ENST00000684231.1:c.*1602A>C	ENSP00000507748.1:n.*1602A>C
ENST00000684263.1:c.*1816A>C	ENSP00000508369.1:n.*1816A>C
ENST00000684305.1:c.2640A>C	ENSP00000506819.1:n.2640A>C
ENST00000684602.1:c.*1858A>C	ENSP00000507996.1:n.*1858A>C
ENST00000684667.1:c.2523A>C	ENSP00000507003.1:n.2523A>C
ENST00000268097.10:c.*602A>C MANE Select	ENSP00000268097.6:n.*602A>C
ENST00000268097.9:c.*602A>C	ENSP00000268097.5:n.*602A>C
ENST00000379915.4:c.608+1971A>C	ENSP00000478716.1:n.608+1971A>C
NM_000520.4:c.*602A>C	NP_000511.2:n.*602A>C
NM_000520.5:c.*602A>C	NP_000511.2:n.*602A>C
NM_001318825.1:c.*602A>C	NP_001305754.1:n.*602A>C
NM_000520.6:c.*602A>C MANE Select	NP_000511.2:n.*602A>C
NM_001318825.2:c.*602A>C	NP_001305754.1:n.*602A>C