Canonical Allele Identifier: CA2629339471

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343463-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343463T>G , CM000677.2:g.72343463T>G	GRCh38
NC_000015.9:g.72635804T>G , CM000677.1:g.72635804T>G	GRCh37
NC_000015.8:g.70422858T>G	NCBI36
NG_009017.1:g.37717A>C
NG_009017.2:g.37717A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2431A>C
ENST00000682235.1:n.2227A>C
ENST00000682461.1:c.2310A>C	ENSP00000507308.1:n.2310A>C
ENST00000682653.1:n.4513A>C
ENST00000682721.1:c.*2007A>C	ENSP00000507535.1:n.*2007A>C
ENST00000682843.1:c.*1845A>C	ENSP00000508173.1:n.*1845A>C
ENST00000683133.1:c.2388A>C	ENSP00000508108.1:n.2388A>C
ENST00000683243.1:c.*1357A>C	ENSP00000507042.1:n.*1357A>C
ENST00000683463.1:c.*1693A>C	ENSP00000507986.1:n.*1693A>C
ENST00000683548.1:n.2662A>C
ENST00000683579.1:c.*2102A>C	ENSP00000506867.1:n.*2102A>C
ENST00000683587.1:n.2735A>C
ENST00000683735.1:c.*2602A>C	ENSP00000508336.1:n.*2602A>C
ENST00000683853.1:c.*2314A>C	ENSP00000506834.1:n.*2314A>C
ENST00000684125.1:c.*864A>C	ENSP00000507320.1:n.*864A>C
ENST00000684203.1:n.4653A>C
ENST00000684231.1:c.*1614A>C	ENSP00000507748.1:n.*1614A>C
ENST00000684263.1:c.*1828A>C	ENSP00000508369.1:n.*1828A>C
ENST00000684305.1:c.2652A>C	ENSP00000506819.1:n.2652A>C
ENST00000684602.1:c.*1870A>C	ENSP00000507996.1:n.*1870A>C
ENST00000684667.1:c.2535A>C	ENSP00000507003.1:n.2535A>C
ENST00000268097.10:c.*614A>C MANE Select	ENSP00000268097.6:n.*614A>C
ENST00000268097.9:c.*614A>C	ENSP00000268097.5:n.*614A>C
ENST00000379915.4:c.608+1983A>C	ENSP00000478716.1:n.608+1983A>C
NM_000520.4:c.*614A>C	NP_000511.2:n.*614A>C
NM_000520.5:c.*614A>C	NP_000511.2:n.*614A>C
NM_001318825.1:c.*614A>C	NP_001305754.1:n.*614A>C
NM_000520.6:c.*614A>C MANE Select	NP_000511.2:n.*614A>C
NM_001318825.2:c.*614A>C	NP_001305754.1:n.*614A>C