Canonical Allele Identifier: CA715469489

Gene: HEXA

Linked Data

• dbSNP Id: rs1481986329
• gnomAD v4: 15-72343686-A-G
• MyVariant Identifiers: chr15:g.72636027A>G (hg19) ; chr15:g.72343686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343686A>G , CM000677.2:g.72343686A>G	GRCh38
NC_000015.9:g.72636027A>G , CM000677.1:g.72636027A>G	GRCh37
NC_000015.8:g.70423081A>G	NCBI36
NG_009017.1:g.37494T>C
NG_009017.2:g.37494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2208T>C
ENST00000682235.1:n.2004T>C
ENST00000682461.1:c.2087T>C	ENSP00000507308.1:n.2087T>C
ENST00000682653.1:n.4290T>C
ENST00000682721.1:c.*1784T>C	ENSP00000507535.1:n.*1784T>C
ENST00000682843.1:c.*1622T>C	ENSP00000508173.1:n.*1622T>C
ENST00000683133.1:c.2165T>C	ENSP00000508108.1:n.2165T>C
ENST00000683243.1:c.*1134T>C	ENSP00000507042.1:n.*1134T>C
ENST00000683463.1:c.*1470T>C	ENSP00000507986.1:n.*1470T>C
ENST00000683548.1:n.2439T>C
ENST00000683579.1:c.*1879T>C	ENSP00000506867.1:n.*1879T>C
ENST00000683587.1:n.2512T>C
ENST00000683735.1:c.*2379T>C	ENSP00000508336.1:n.*2379T>C
ENST00000683853.1:c.*2091T>C	ENSP00000506834.1:n.*2091T>C
ENST00000684125.1:c.*641T>C	ENSP00000507320.1:n.*641T>C
ENST00000684203.1:n.4430T>C
ENST00000684231.1:c.*1391T>C	ENSP00000507748.1:n.*1391T>C
ENST00000684263.1:c.*1605T>C	ENSP00000508369.1:n.*1605T>C
ENST00000684305.1:c.2429T>C	ENSP00000506819.1:n.2429T>C
ENST00000684602.1:c.*1647T>C	ENSP00000507996.1:n.*1647T>C
ENST00000684667.1:c.2312T>C	ENSP00000507003.1:n.2312T>C
ENST00000268097.10:c.*391T>C MANE Select	ENSP00000268097.6:n.*391T>C
ENST00000268097.9:c.*391T>C	ENSP00000268097.5:n.*391T>C
ENST00000379915.4:c.608+1760T>C	ENSP00000478716.1:n.608+1760T>C
NM_000520.4:c.*391T>C	NP_000511.2:n.*391T>C
NM_000520.5:c.*391T>C	NP_000511.2:n.*391T>C
NM_001318825.1:c.*391T>C	NP_001305754.1:n.*391T>C
NM_000520.6:c.*391T>C MANE Select	NP_000511.2:n.*391T>C
NM_001318825.2:c.*391T>C	NP_001305754.1:n.*391T>C