Canonical Allele Identifier: CA2629339722

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343666-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343666A>G , CM000677.2:g.72343666A>G	GRCh38
NC_000015.9:g.72636007A>G , CM000677.1:g.72636007A>G	GRCh37
NC_000015.8:g.70423061A>G	NCBI36
NG_009017.1:g.37514T>C
NG_009017.2:g.37514T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2228T>C
ENST00000682235.1:n.2024T>C
ENST00000682461.1:c.2107T>C	ENSP00000507308.1:n.2107T>C
ENST00000682653.1:n.4310T>C
ENST00000682721.1:c.*1804T>C	ENSP00000507535.1:n.*1804T>C
ENST00000682843.1:c.*1642T>C	ENSP00000508173.1:n.*1642T>C
ENST00000683133.1:c.2185T>C	ENSP00000508108.1:n.2185T>C
ENST00000683243.1:c.*1154T>C	ENSP00000507042.1:n.*1154T>C
ENST00000683463.1:c.*1490T>C	ENSP00000507986.1:n.*1490T>C
ENST00000683548.1:n.2459T>C
ENST00000683579.1:c.*1899T>C	ENSP00000506867.1:n.*1899T>C
ENST00000683587.1:n.2532T>C
ENST00000683735.1:c.*2399T>C	ENSP00000508336.1:n.*2399T>C
ENST00000683853.1:c.*2111T>C	ENSP00000506834.1:n.*2111T>C
ENST00000684125.1:c.*661T>C	ENSP00000507320.1:n.*661T>C
ENST00000684203.1:n.4450T>C
ENST00000684231.1:c.*1411T>C	ENSP00000507748.1:n.*1411T>C
ENST00000684263.1:c.*1625T>C	ENSP00000508369.1:n.*1625T>C
ENST00000684305.1:c.2449T>C	ENSP00000506819.1:n.2449T>C
ENST00000684602.1:c.*1667T>C	ENSP00000507996.1:n.*1667T>C
ENST00000684667.1:c.2332T>C	ENSP00000507003.1:n.2332T>C
ENST00000268097.10:c.*411T>C MANE Select	ENSP00000268097.6:n.*411T>C
ENST00000268097.9:c.*411T>C	ENSP00000268097.5:n.*411T>C
ENST00000379915.4:c.608+1780T>C	ENSP00000478716.1:n.608+1780T>C
NM_000520.4:c.*411T>C	NP_000511.2:n.*411T>C
NM_000520.5:c.*411T>C	NP_000511.2:n.*411T>C
NM_001318825.1:c.*411T>C	NP_001305754.1:n.*411T>C
NM_000520.6:c.*411T>C MANE Select	NP_000511.2:n.*411T>C
NM_001318825.2:c.*411T>C	NP_001305754.1:n.*411T>C