Canonical Allele Identifier: CA2629339575

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343547-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343547G>C , CM000677.2:g.72343547G>C	GRCh38
NC_000015.9:g.72635888G>C , CM000677.1:g.72635888G>C	GRCh37
NC_000015.8:g.70422942G>C	NCBI36
NG_009017.1:g.37633C>G
NG_009017.2:g.37633C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2347C>G
ENST00000682235.1:n.2143C>G
ENST00000682461.1:c.2226C>G	ENSP00000507308.1:n.2226C>G
ENST00000682653.1:n.4429C>G
ENST00000682721.1:c.*1923C>G	ENSP00000507535.1:n.*1923C>G
ENST00000682843.1:c.*1761C>G	ENSP00000508173.1:n.*1761C>G
ENST00000683133.1:c.2304C>G	ENSP00000508108.1:n.2304C>G
ENST00000683243.1:c.*1273C>G	ENSP00000507042.1:n.*1273C>G
ENST00000683463.1:c.*1609C>G	ENSP00000507986.1:n.*1609C>G
ENST00000683548.1:n.2578C>G
ENST00000683579.1:c.*2018C>G	ENSP00000506867.1:n.*2018C>G
ENST00000683587.1:n.2651C>G
ENST00000683735.1:c.*2518C>G	ENSP00000508336.1:n.*2518C>G
ENST00000683853.1:c.*2230C>G	ENSP00000506834.1:n.*2230C>G
ENST00000684125.1:c.*780C>G	ENSP00000507320.1:n.*780C>G
ENST00000684203.1:n.4569C>G
ENST00000684231.1:c.*1530C>G	ENSP00000507748.1:n.*1530C>G
ENST00000684263.1:c.*1744C>G	ENSP00000508369.1:n.*1744C>G
ENST00000684305.1:c.2568C>G	ENSP00000506819.1:n.2568C>G
ENST00000684602.1:c.*1786C>G	ENSP00000507996.1:n.*1786C>G
ENST00000684667.1:c.2451C>G	ENSP00000507003.1:n.2451C>G
ENST00000268097.10:c.*530C>G MANE Select	ENSP00000268097.6:n.*530C>G
ENST00000268097.9:c.*530C>G	ENSP00000268097.5:n.*530C>G
ENST00000379915.4:c.608+1899C>G	ENSP00000478716.1:n.608+1899C>G
NM_000520.4:c.*530C>G	NP_000511.2:n.*530C>G
NM_000520.5:c.*530C>G	NP_000511.2:n.*530C>G
NM_001318825.1:c.*530C>G	NP_001305754.1:n.*530C>G
NM_000520.6:c.*530C>G MANE Select	NP_000511.2:n.*530C>G
NM_001318825.2:c.*530C>G	NP_001305754.1:n.*530C>G