Canonical Allele Identifier: CA2629339584

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343552-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343552A>G , CM000677.2:g.72343552A>G	GRCh38
NC_000015.9:g.72635893A>G , CM000677.1:g.72635893A>G	GRCh37
NC_000015.8:g.70422947A>G	NCBI36
NG_009017.1:g.37628T>C
NG_009017.2:g.37628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2342T>C
ENST00000682235.1:n.2138T>C
ENST00000682461.1:c.2221T>C	ENSP00000507308.1:n.2221T>C
ENST00000682653.1:n.4424T>C
ENST00000682721.1:c.*1918T>C	ENSP00000507535.1:n.*1918T>C
ENST00000682843.1:c.*1756T>C	ENSP00000508173.1:n.*1756T>C
ENST00000683133.1:c.2299T>C	ENSP00000508108.1:n.2299T>C
ENST00000683243.1:c.*1268T>C	ENSP00000507042.1:n.*1268T>C
ENST00000683463.1:c.*1604T>C	ENSP00000507986.1:n.*1604T>C
ENST00000683548.1:n.2573T>C
ENST00000683579.1:c.*2013T>C	ENSP00000506867.1:n.*2013T>C
ENST00000683587.1:n.2646T>C
ENST00000683735.1:c.*2513T>C	ENSP00000508336.1:n.*2513T>C
ENST00000683853.1:c.*2225T>C	ENSP00000506834.1:n.*2225T>C
ENST00000684125.1:c.*775T>C	ENSP00000507320.1:n.*775T>C
ENST00000684203.1:n.4564T>C
ENST00000684231.1:c.*1525T>C	ENSP00000507748.1:n.*1525T>C
ENST00000684263.1:c.*1739T>C	ENSP00000508369.1:n.*1739T>C
ENST00000684305.1:c.2563T>C	ENSP00000506819.1:n.2563T>C
ENST00000684602.1:c.*1781T>C	ENSP00000507996.1:n.*1781T>C
ENST00000684667.1:c.2446T>C	ENSP00000507003.1:n.2446T>C
ENST00000268097.10:c.*525T>C MANE Select	ENSP00000268097.6:n.*525T>C
ENST00000268097.9:c.*525T>C	ENSP00000268097.5:n.*525T>C
ENST00000379915.4:c.608+1894T>C	ENSP00000478716.1:n.608+1894T>C
NM_000520.4:c.*525T>C	NP_000511.2:n.*525T>C
NM_000520.5:c.*525T>C	NP_000511.2:n.*525T>C
NM_001318825.1:c.*525T>C	NP_001305754.1:n.*525T>C
NM_000520.6:c.*525T>C MANE Select	NP_000511.2:n.*525T>C
NM_001318825.2:c.*525T>C	NP_001305754.1:n.*525T>C