Canonical Allele Identifier: CA2629339466

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343454-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343454T>G , CM000677.2:g.72343454T>G	GRCh38
NC_000015.9:g.72635795T>G , CM000677.1:g.72635795T>G	GRCh37
NC_000015.8:g.70422849T>G	NCBI36
NG_009017.1:g.37726A>C
NG_009017.2:g.37726A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2440A>C
ENST00000682235.1:n.2236A>C
ENST00000682461.1:c.2319A>C	ENSP00000507308.1:n.2319A>C
ENST00000682721.1:c.*2016A>C	ENSP00000507535.1:n.*2016A>C
ENST00000682843.1:c.*1854A>C	ENSP00000508173.1:n.*1854A>C
ENST00000683133.1:c.2397A>C	ENSP00000508108.1:n.2397A>C
ENST00000683243.1:c.*1366A>C	ENSP00000507042.1:n.*1366A>C
ENST00000683463.1:c.*1702A>C	ENSP00000507986.1:n.*1702A>C
ENST00000683548.1:n.2671A>C
ENST00000683579.1:c.*2111A>C	ENSP00000506867.1:n.*2111A>C
ENST00000683587.1:n.2744A>C
ENST00000683735.1:c.*2611A>C	ENSP00000508336.1:n.*2611A>C
ENST00000683853.1:c.*2323A>C	ENSP00000506834.1:n.*2323A>C
ENST00000684125.1:c.*873A>C	ENSP00000507320.1:n.*873A>C
ENST00000684203.1:n.4662A>C
ENST00000684231.1:c.*1623A>C	ENSP00000507748.1:n.*1623A>C
ENST00000684263.1:c.*1837A>C	ENSP00000508369.1:n.*1837A>C
ENST00000684305.1:c.2661A>C	ENSP00000506819.1:n.2661A>C
ENST00000684602.1:c.*1879A>C	ENSP00000507996.1:n.*1879A>C
ENST00000684667.1:c.2544A>C	ENSP00000507003.1:n.2544A>C
ENST00000268097.10:c.*623A>C MANE Select	ENSP00000268097.6:n.*623A>C
ENST00000268097.9:c.*623A>C	ENSP00000268097.5:n.*623A>C
ENST00000379915.4:c.608+1992A>C	ENSP00000478716.1:n.608+1992A>C
NM_000520.4:c.*623A>C	NP_000511.2:n.*623A>C
NM_000520.5:c.*623A>C	NP_000511.2:n.*623A>C
NM_001318825.1:c.*623A>C	NP_001305754.1:n.*623A>C
NM_000520.6:c.*623A>C MANE Select	NP_000511.2:n.*623A>C
NM_001318825.2:c.*623A>C	NP_001305754.1:n.*623A>C