Canonical Allele Identifier: CA272607681

Gene: HEXA

Linked Data

• dbSNP Id: rs555620598
• gnomAD v2: 15-72635994-T-G
• gnomAD v3: 15-72343653-T-G
• gnomAD v4: 15-72343653-T-G
• MyVariant Identifiers: chr15:g.72635994T>G (hg19) ; chr15:g.72343653T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343653T>G , CM000677.2:g.72343653T>G	GRCh38
NC_000015.9:g.72635994T>G , CM000677.1:g.72635994T>G	GRCh37
NC_000015.8:g.70423048T>G	NCBI36
NG_009017.1:g.37527A>C
NG_009017.2:g.37527A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2241A>C
ENST00000682235.1:n.2037A>C
ENST00000682461.1:c.2120A>C	ENSP00000507308.1:n.2120A>C
ENST00000682653.1:n.4323A>C
ENST00000682721.1:c.*1817A>C	ENSP00000507535.1:n.*1817A>C
ENST00000682843.1:c.*1655A>C	ENSP00000508173.1:n.*1655A>C
ENST00000683133.1:c.2198A>C	ENSP00000508108.1:n.2198A>C
ENST00000683243.1:c.*1167A>C	ENSP00000507042.1:n.*1167A>C
ENST00000683463.1:c.*1503A>C	ENSP00000507986.1:n.*1503A>C
ENST00000683548.1:n.2472A>C
ENST00000683579.1:c.*1912A>C	ENSP00000506867.1:n.*1912A>C
ENST00000683587.1:n.2545A>C
ENST00000683735.1:c.*2412A>C	ENSP00000508336.1:n.*2412A>C
ENST00000683853.1:c.*2124A>C	ENSP00000506834.1:n.*2124A>C
ENST00000684125.1:c.*674A>C	ENSP00000507320.1:n.*674A>C
ENST00000684203.1:n.4463A>C
ENST00000684231.1:c.*1424A>C	ENSP00000507748.1:n.*1424A>C
ENST00000684263.1:c.*1638A>C	ENSP00000508369.1:n.*1638A>C
ENST00000684305.1:c.2462A>C	ENSP00000506819.1:n.2462A>C
ENST00000684602.1:c.*1680A>C	ENSP00000507996.1:n.*1680A>C
ENST00000684667.1:c.2345A>C	ENSP00000507003.1:n.2345A>C
ENST00000268097.10:c.*424A>C MANE Select	ENSP00000268097.6:n.*424A>C
ENST00000268097.9:c.*424A>C	ENSP00000268097.5:n.*424A>C
ENST00000379915.4:c.608+1793A>C	ENSP00000478716.1:n.608+1793A>C
NM_000520.4:c.*424A>C	NP_000511.2:n.*424A>C
NM_000520.5:c.*424A>C	NP_000511.2:n.*424A>C
NM_001318825.1:c.*424A>C	NP_001305754.1:n.*424A>C
NM_000520.6:c.*424A>C MANE Select	NP_000511.2:n.*424A>C
NM_001318825.2:c.*424A>C	NP_001305754.1:n.*424A>C