Canonical Allele Identifier: CA715469397

Gene: HEXA

Linked Data

• dbSNP Id: rs1262100648
• gnomAD v3: 15-72343546-T-C
• gnomAD v4: 15-72343546-T-C
• MyVariant Identifiers: chr15:g.72635887T>C (hg19) ; chr15:g.72343546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343546T>C , CM000677.2:g.72343546T>C	GRCh38
NC_000015.9:g.72635887T>C , CM000677.1:g.72635887T>C	GRCh37
NC_000015.8:g.70422941T>C	NCBI36
NG_009017.1:g.37634A>G
NG_009017.2:g.37634A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2348A>G
ENST00000682235.1:n.2144A>G
ENST00000682461.1:c.2227A>G	ENSP00000507308.1:n.2227A>G
ENST00000682653.1:n.4430A>G
ENST00000682721.1:c.*1924A>G	ENSP00000507535.1:n.*1924A>G
ENST00000682843.1:c.*1762A>G	ENSP00000508173.1:n.*1762A>G
ENST00000683133.1:c.2305A>G	ENSP00000508108.1:n.2305A>G
ENST00000683243.1:c.*1274A>G	ENSP00000507042.1:n.*1274A>G
ENST00000683463.1:c.*1610A>G	ENSP00000507986.1:n.*1610A>G
ENST00000683548.1:n.2579A>G
ENST00000683579.1:c.*2019A>G	ENSP00000506867.1:n.*2019A>G
ENST00000683587.1:n.2652A>G
ENST00000683735.1:c.*2519A>G	ENSP00000508336.1:n.*2519A>G
ENST00000683853.1:c.*2231A>G	ENSP00000506834.1:n.*2231A>G
ENST00000684125.1:c.*781A>G	ENSP00000507320.1:n.*781A>G
ENST00000684203.1:n.4570A>G
ENST00000684231.1:c.*1531A>G	ENSP00000507748.1:n.*1531A>G
ENST00000684263.1:c.*1745A>G	ENSP00000508369.1:n.*1745A>G
ENST00000684305.1:c.2569A>G	ENSP00000506819.1:n.2569A>G
ENST00000684602.1:c.*1787A>G	ENSP00000507996.1:n.*1787A>G
ENST00000684667.1:c.2452A>G	ENSP00000507003.1:n.2452A>G
ENST00000268097.10:c.*531A>G MANE Select	ENSP00000268097.6:n.*531A>G
ENST00000268097.9:c.*531A>G	ENSP00000268097.5:n.*531A>G
ENST00000379915.4:c.608+1900A>G	ENSP00000478716.1:n.608+1900A>G
NM_000520.4:c.*531A>G	NP_000511.2:n.*531A>G
NM_000520.5:c.*531A>G	NP_000511.2:n.*531A>G
NM_001318825.1:c.*531A>G	NP_001305754.1:n.*531A>G
NM_000520.6:c.*531A>G MANE Select	NP_000511.2:n.*531A>G
NM_001318825.2:c.*531A>G	NP_001305754.1:n.*531A>G