Canonical Allele Identifier: CA715469490

Gene: HEXA

Linked Data

• dbSNP Id: rs760592453
• gnomAD v4: 15-72343697-C-A
• MyVariant Identifiers: chr15:g.72636038C>A (hg19) ; chr15:g.72343697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343697C>A , CM000677.2:g.72343697C>A	GRCh38
NC_000015.9:g.72636038C>A , CM000677.1:g.72636038C>A	GRCh37
NC_000015.8:g.70423092C>A	NCBI36
NG_009017.1:g.37483G>T
NG_009017.2:g.37483G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2197G>T
ENST00000682235.1:n.1993G>T
ENST00000682461.1:c.2076G>T	ENSP00000507308.1:n.2076G>T
ENST00000682653.1:n.4279G>T
ENST00000682721.1:c.*1773G>T	ENSP00000507535.1:n.*1773G>T
ENST00000682843.1:c.*1611G>T	ENSP00000508173.1:n.*1611G>T
ENST00000683133.1:c.2154G>T	ENSP00000508108.1:n.2154G>T
ENST00000683243.1:c.*1123G>T	ENSP00000507042.1:n.*1123G>T
ENST00000683463.1:c.*1459G>T	ENSP00000507986.1:n.*1459G>T
ENST00000683548.1:n.2428G>T
ENST00000683579.1:c.*1868G>T	ENSP00000506867.1:n.*1868G>T
ENST00000683587.1:n.2501G>T
ENST00000683735.1:c.*2368G>T	ENSP00000508336.1:n.*2368G>T
ENST00000683853.1:c.*2080G>T	ENSP00000506834.1:n.*2080G>T
ENST00000684125.1:c.*630G>T	ENSP00000507320.1:n.*630G>T
ENST00000684203.1:n.4419G>T
ENST00000684231.1:c.*1380G>T	ENSP00000507748.1:n.*1380G>T
ENST00000684263.1:c.*1594G>T	ENSP00000508369.1:n.*1594G>T
ENST00000684305.1:c.2418G>T	ENSP00000506819.1:n.2418G>T
ENST00000684602.1:c.*1636G>T	ENSP00000507996.1:n.*1636G>T
ENST00000684667.1:c.2301G>T	ENSP00000507003.1:n.2301G>T
ENST00000268097.10:c.*380G>T MANE Select	ENSP00000268097.6:n.*380G>T
ENST00000268097.9:c.*380G>T	ENSP00000268097.5:n.*380G>T
ENST00000379915.4:c.608+1749G>T	ENSP00000478716.1:n.608+1749G>T
NM_000520.4:c.*380G>T	NP_000511.2:n.*380G>T
NM_000520.5:c.*380G>T	NP_000511.2:n.*380G>T
NM_001318825.1:c.*380G>T	NP_001305754.1:n.*380G>T
NM_000520.6:c.*380G>T MANE Select	NP_000511.2:n.*380G>T
NM_001318825.2:c.*380G>T	NP_001305754.1:n.*380G>T