Canonical Allele Identifier: CA393062714

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1384917
• ClinVar RCV Id: RCV001924949
• dbSNP Id: rs2088664026
• gnomAD v4: 15-72349247-A-G
• MyVariant Identifiers: chr15:g.72641588A>G (hg19) ; chr15:g.72349247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349247A>G , CM000677.2:g.72349247A>G	GRCh38
NC_000015.9:g.72641588A>G , CM000677.1:g.72641588A>G	GRCh37
NC_000015.8:g.70428642A>G	NCBI36
NG_009017.1:g.31933T>C
NG_009017.2:g.31933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3164T>C
ENST00000567027.6:c.818T>C	ENSP00000457521.2:p.Leu273Ser
ENST00000682061.1:c.*480T>C	ENSP00000508316.1:n.*480T>C
ENST00000682177.1:c.861T>C	ENSP00000507409.1:n.861T>C
ENST00000682461.1:c.924T>C	ENSP00000507308.1:n.924T>C
ENST00000682653.1:n.849T>C
ENST00000682657.1:c.*228T>C	ENSP00000507753.1:n.*228T>C
ENST00000682721.1:c.*621T>C	ENSP00000507535.1:n.*621T>C
ENST00000682843.1:c.*716T>C	ENSP00000508173.1:n.*716T>C
ENST00000683003.1:c.*228T>C	ENSP00000507576.1:n.*228T>C
ENST00000683133.1:c.1002T>C	ENSP00000508108.1:n.1002T>C
ENST00000683228.1:n.849T>C
ENST00000683243.1:c.*228T>C	ENSP00000507042.1:n.*228T>C
ENST00000683463.1:c.818T>C	ENSP00000507986.1:p.Leu273Ser
ENST00000683548.1:n.849T>C
ENST00000683579.1:c.*716T>C	ENSP00000506867.1:n.*716T>C
ENST00000683587.1:n.849T>C
ENST00000683681.1:c.818T>C	ENSP00000508110.1:p.Leu273Ser
ENST00000683735.1:c.*716T>C	ENSP00000508336.1:n.*716T>C
ENST00000683742.1:n.649T>C
ENST00000683853.1:c.818T>C	ENSP00000506834.1:p.Leu273Ser
ENST00000683860.1:c.818T>C	ENSP00000507179.1:p.Leu273Ser
ENST00000683884.1:c.818T>C	ENSP00000507004.1:p.Leu273Ser
ENST00000684041.1:c.818T>C	ENSP00000508382.1:p.Leu273Ser
ENST00000684125.1:c.818T>C	ENSP00000507320.1:p.Leu273Ser
ENST00000684203.1:n.2656T>C
ENST00000684231.1:c.*228T>C	ENSP00000507748.1:n.*228T>C
ENST00000684263.1:c.818T>C	ENSP00000508369.1:p.Leu273Ser
ENST00000684305.1:c.1266T>C	ENSP00000506819.1:n.1266T>C
ENST00000684415.1:c.818T>C	ENSP00000507227.1:p.Leu273Ser
ENST00000684520.1:c.818T>C	ENSP00000506826.1:p.Leu273Ser
ENST00000684602.1:c.*484T>C	ENSP00000507996.1:n.*484T>C
ENST00000684667.1:c.1149T>C	ENSP00000507003.1:n.1149T>C
ENST00000268097.10:c.818T>C MANE Select	ENSP00000268097.6:p.Leu273Ser
ENST00000268097.9:c.818T>C	ENSP00000268097.5:p.Leu273Ser
ENST00000379915.4:c.413-2922T>C	ENSP00000478716.1:n.413-2922T>C
ENST00000563762.5:c.739-1113T>C	ENSP00000456346.1:n.739-1113T>C
ENST00000566304.5:c.851T>C	ENSP00000455114.1:p.Leu284Ser
ENST00000566672.5:c.*228T>C	ENSP00000457037.1:n.*228T>C
ENST00000567027.5:c.690T>C
ENST00000567159.5:c.818T>C	ENSP00000456489.1:p.Leu273Ser
ENST00000567411.5:c.*339T>C	ENSP00000455545.1:n.*339T>C
ENST00000568777.5:n.6222T>C
ENST00000569410.5:c.818T>C	ENSP00000457125.1:p.Leu273Ser
NM_000520.4:c.818T>C	NP_000511.2:p.Leu273Ser
NM_000520.5:c.818T>C	NP_000511.2:p.Leu273Ser
NM_001318825.1:c.851T>C	NP_001305754.1:p.Leu284Ser
NR_134869.1:n.1319T>C
NM_000520.6:c.818T>C MANE Select	NP_000511.2:p.Leu273Ser
NM_001318825.2:c.851T>C	NP_001305754.1:p.Leu284Ser
NR_134869.2:n.860T>C
NR_134869.3:n.860T>C