Canonical Allele Identifier: CA491114091

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345895-C-A
• MyVariant Identifiers: chr15:g.72638236C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345895C>A , CM000677.2:g.72345895C>A	GRCh38
NC_000015.9:g.72638236C>A , CM000677.1:g.72638236C>A	GRCh37
NC_000015.8:g.70425290C>A	NCBI36
NG_009017.1:g.35285G>T
NG_009017.2:g.35285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+340G>T	ENSP00000457521.2:n.*81+340G>T
ENST00000682061.1:c.*1423G>T	ENSP00000508316.1:n.*1423G>T
ENST00000682064.1:n.1304G>T
ENST00000682177.1:c.1464+340G>T	ENSP00000507409.1:n.1464+340G>T
ENST00000682235.1:n.1100G>T
ENST00000682461.1:c.1527+340G>T	ENSP00000507308.1:n.1527+340G>T
ENST00000682653.1:n.2081G>T
ENST00000682657.1:c.*914G>T	ENSP00000507753.1:n.*914G>T
ENST00000682721.1:c.*1224+340G>T	ENSP00000507535.1:n.*1224+340G>T
ENST00000682843.1:c.*1062+340G>T	ENSP00000508173.1:n.*1062+340G>T
ENST00000683003.1:c.*914G>T	ENSP00000507576.1:n.*914G>T
ENST00000683133.1:c.1605+340G>T	ENSP00000508108.1:n.1605+340G>T
ENST00000683243.1:c.*574+340G>T	ENSP00000507042.1:n.*574+340G>T
ENST00000683463.1:c.*566G>T	ENSP00000507986.1:n.*566G>T
ENST00000683548.1:n.1535G>T
ENST00000683579.1:c.*1319+340G>T	ENSP00000506867.1:n.*1319+340G>T
ENST00000683587.1:n.1608G>T
ENST00000683681.1:c.1422-119G>T	ENSP00000508110.1:n.1422-119G>T
ENST00000683735.1:c.*1475G>T	ENSP00000508336.1:n.*1475G>T
ENST00000683853.1:c.*226+340G>T	ENSP00000506834.1:n.*226+340G>T
ENST00000683860.1:c.*197G>T	ENSP00000507179.1:n.*197G>T
ENST00000683884.1:c.*404G>T	ENSP00000507004.1:n.*404G>T
ENST00000684041.1:c.*336G>T	ENSP00000508382.1:n.*336G>T
ENST00000684125.1:c.*81+340G>T	ENSP00000507320.1:n.*81+340G>T
ENST00000684203.1:n.3526G>T
ENST00000684231.1:c.*831+340G>T	ENSP00000507748.1:n.*831+340G>T
ENST00000684263.1:c.*701G>T	ENSP00000508369.1:n.*701G>T
ENST00000684305.1:c.1869+340G>T	ENSP00000506819.1:n.1869+340G>T
ENST00000684415.1:c.*628G>T	ENSP00000507227.1:n.*628G>T
ENST00000684520.1:c.*336G>T	ENSP00000506826.1:n.*336G>T
ENST00000684602.1:c.*1087+340G>T	ENSP00000507996.1:n.*1087+340G>T
ENST00000684667.1:c.1752+340G>T	ENSP00000507003.1:n.1752+340G>T
ENST00000268097.10:c.1421+340G>T MANE Select	ENSP00000268097.6:n.1421+340G>T
ENST00000268097.9:c.1421+340G>T	ENSP00000268097.5:n.1421+340G>T
ENST00000379915.4:c.503+340G>T	ENSP00000478716.1:n.503+340G>T
ENST00000566304.5:c.1454+340G>T	ENSP00000455114.1:n.1454+340G>T
ENST00000567027.5:c.1036+340G>T
ENST00000567159.5:c.1421+340G>T	ENSP00000456489.1:n.1421+340G>T
ENST00000567411.5:c.*942+340G>T	ENSP00000455545.1:n.*942+340G>T
ENST00000568777.5:n.6641+340G>T
NM_000520.4:c.1421+340G>T	NP_000511.2:n.1421+340G>T
NM_000520.5:c.1421+340G>T	NP_000511.2:n.1421+340G>T
NM_001318825.1:c.1454+340G>T	NP_001305754.1:n.1454+340G>T
NR_134869.1:n.1665+340G>T
NM_000520.6:c.1421+340G>T MANE Select	NP_000511.2:n.1421+340G>T
NM_001318825.2:c.1454+340G>T	NP_001305754.1:n.1454+340G>T
NR_134869.2:n.1206+340G>T
NR_134869.3:n.1206+340G>T