Canonical Allele Identifier: CA272607709

Gene: HEXA

Linked Data

• dbSNP Id: rs1033099973
• gnomAD v4: 15-72343681-G-T
• MyVariant Identifiers: chr15:g.72636022G>T (hg19) ; chr15:g.72343681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343681G>T , CM000677.2:g.72343681G>T	GRCh38
NC_000015.9:g.72636022G>T , CM000677.1:g.72636022G>T	GRCh37
NC_000015.8:g.70423076G>T	NCBI36
NG_009017.1:g.37499C>A
NG_009017.2:g.37499C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2213C>A
ENST00000682235.1:n.2009C>A
ENST00000682461.1:c.2092C>A	ENSP00000507308.1:n.2092C>A
ENST00000682653.1:n.4295C>A
ENST00000682721.1:c.*1789C>A	ENSP00000507535.1:n.*1789C>A
ENST00000682843.1:c.*1627C>A	ENSP00000508173.1:n.*1627C>A
ENST00000683133.1:c.2170C>A	ENSP00000508108.1:n.2170C>A
ENST00000683243.1:c.*1139C>A	ENSP00000507042.1:n.*1139C>A
ENST00000683463.1:c.*1475C>A	ENSP00000507986.1:n.*1475C>A
ENST00000683548.1:n.2444C>A
ENST00000683579.1:c.*1884C>A	ENSP00000506867.1:n.*1884C>A
ENST00000683587.1:n.2517C>A
ENST00000683735.1:c.*2384C>A	ENSP00000508336.1:n.*2384C>A
ENST00000683853.1:c.*2096C>A	ENSP00000506834.1:n.*2096C>A
ENST00000684125.1:c.*646C>A	ENSP00000507320.1:n.*646C>A
ENST00000684203.1:n.4435C>A
ENST00000684231.1:c.*1396C>A	ENSP00000507748.1:n.*1396C>A
ENST00000684263.1:c.*1610C>A	ENSP00000508369.1:n.*1610C>A
ENST00000684305.1:c.2434C>A	ENSP00000506819.1:n.2434C>A
ENST00000684602.1:c.*1652C>A	ENSP00000507996.1:n.*1652C>A
ENST00000684667.1:c.2317C>A	ENSP00000507003.1:n.2317C>A
ENST00000268097.10:c.*396C>A MANE Select	ENSP00000268097.6:n.*396C>A
ENST00000268097.9:c.*396C>A	ENSP00000268097.5:n.*396C>A
ENST00000379915.4:c.608+1765C>A	ENSP00000478716.1:n.608+1765C>A
NM_000520.4:c.*396C>A	NP_000511.2:n.*396C>A
NM_000520.5:c.*396C>A	NP_000511.2:n.*396C>A
NM_001318825.1:c.*396C>A	NP_001305754.1:n.*396C>A
NM_000520.6:c.*396C>A MANE Select	NP_000511.2:n.*396C>A
NM_001318825.2:c.*396C>A	NP_001305754.1:n.*396C>A