Canonical Allele Identifier: CA2629339473

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343464-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343464T>G , CM000677.2:g.72343464T>G	GRCh38
NC_000015.9:g.72635805T>G , CM000677.1:g.72635805T>G	GRCh37
NC_000015.8:g.70422859T>G	NCBI36
NG_009017.1:g.37716A>C
NG_009017.2:g.37716A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2430A>C
ENST00000682235.1:n.2226A>C
ENST00000682461.1:c.2309A>C	ENSP00000507308.1:n.2309A>C
ENST00000682653.1:n.4512A>C
ENST00000682721.1:c.*2006A>C	ENSP00000507535.1:n.*2006A>C
ENST00000682843.1:c.*1844A>C	ENSP00000508173.1:n.*1844A>C
ENST00000683133.1:c.2387A>C	ENSP00000508108.1:n.2387A>C
ENST00000683243.1:c.*1356A>C	ENSP00000507042.1:n.*1356A>C
ENST00000683463.1:c.*1692A>C	ENSP00000507986.1:n.*1692A>C
ENST00000683548.1:n.2661A>C
ENST00000683579.1:c.*2101A>C	ENSP00000506867.1:n.*2101A>C
ENST00000683587.1:n.2734A>C
ENST00000683735.1:c.*2601A>C	ENSP00000508336.1:n.*2601A>C
ENST00000683853.1:c.*2313A>C	ENSP00000506834.1:n.*2313A>C
ENST00000684125.1:c.*863A>C	ENSP00000507320.1:n.*863A>C
ENST00000684203.1:n.4652A>C
ENST00000684231.1:c.*1613A>C	ENSP00000507748.1:n.*1613A>C
ENST00000684263.1:c.*1827A>C	ENSP00000508369.1:n.*1827A>C
ENST00000684305.1:c.2651A>C	ENSP00000506819.1:n.2651A>C
ENST00000684602.1:c.*1869A>C	ENSP00000507996.1:n.*1869A>C
ENST00000684667.1:c.2534A>C	ENSP00000507003.1:n.2534A>C
ENST00000268097.10:c.*613A>C MANE Select	ENSP00000268097.6:n.*613A>C
ENST00000268097.9:c.*613A>C	ENSP00000268097.5:n.*613A>C
ENST00000379915.4:c.608+1982A>C	ENSP00000478716.1:n.608+1982A>C
NM_000520.4:c.*613A>C	NP_000511.2:n.*613A>C
NM_000520.5:c.*613A>C	NP_000511.2:n.*613A>C
NM_001318825.1:c.*613A>C	NP_001305754.1:n.*613A>C
NM_000520.6:c.*613A>C MANE Select	NP_000511.2:n.*613A>C
NM_001318825.2:c.*613A>C	NP_001305754.1:n.*613A>C