Canonical Allele Identifier: CA618766024

Gene: HEXA

Linked Data

• dbSNP Id: rs1368354107
• gnomAD v2: 15-72635803-A-G
• gnomAD v3: 15-72343462-A-G
• gnomAD v4: 15-72343462-A-G
• MyVariant Identifiers: chr15:g.72635803A>G (hg19) ; chr15:g.72343462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343462A>G , CM000677.2:g.72343462A>G	GRCh38
NC_000015.9:g.72635803A>G , CM000677.1:g.72635803A>G	GRCh37
NC_000015.8:g.70422857A>G	NCBI36
NG_009017.1:g.37718T>C
NG_009017.2:g.37718T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2432T>C
ENST00000682235.1:n.2228T>C
ENST00000682461.1:c.2311T>C	ENSP00000507308.1:n.2311T>C
ENST00000682653.1:n.4514T>C
ENST00000682721.1:c.*2008T>C	ENSP00000507535.1:n.*2008T>C
ENST00000682843.1:c.*1846T>C	ENSP00000508173.1:n.*1846T>C
ENST00000683133.1:c.2389T>C	ENSP00000508108.1:n.2389T>C
ENST00000683243.1:c.*1358T>C	ENSP00000507042.1:n.*1358T>C
ENST00000683463.1:c.*1694T>C	ENSP00000507986.1:n.*1694T>C
ENST00000683548.1:n.2663T>C
ENST00000683579.1:c.*2103T>C	ENSP00000506867.1:n.*2103T>C
ENST00000683587.1:n.2736T>C
ENST00000683735.1:c.*2603T>C	ENSP00000508336.1:n.*2603T>C
ENST00000683853.1:c.*2315T>C	ENSP00000506834.1:n.*2315T>C
ENST00000684125.1:c.*865T>C	ENSP00000507320.1:n.*865T>C
ENST00000684203.1:n.4654T>C
ENST00000684231.1:c.*1615T>C	ENSP00000507748.1:n.*1615T>C
ENST00000684263.1:c.*1829T>C	ENSP00000508369.1:n.*1829T>C
ENST00000684305.1:c.2653T>C	ENSP00000506819.1:n.2653T>C
ENST00000684602.1:c.*1871T>C	ENSP00000507996.1:n.*1871T>C
ENST00000684667.1:c.2536T>C	ENSP00000507003.1:n.2536T>C
ENST00000268097.10:c.*615T>C MANE Select	ENSP00000268097.6:n.*615T>C
ENST00000268097.9:c.*615T>C	ENSP00000268097.5:n.*615T>C
ENST00000379915.4:c.608+1984T>C	ENSP00000478716.1:n.608+1984T>C
NM_000520.4:c.*615T>C	NP_000511.2:n.*615T>C
NM_000520.5:c.*615T>C	NP_000511.2:n.*615T>C
NM_001318825.1:c.*615T>C	NP_001305754.1:n.*615T>C
NM_000520.6:c.*615T>C MANE Select	NP_000511.2:n.*615T>C
NM_001318825.2:c.*615T>C	NP_001305754.1:n.*615T>C