Canonical Allele Identifier: CA393058490

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345457-A-C
• MyVariant Identifiers: chr15:g.72637798A>C (hg19) ; chr15:g.72345457A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345457A>C , CM000677.2:g.72345457A>C	GRCh38
NC_000015.9:g.72637798A>C , CM000677.1:g.72637798A>C	GRCh37
NC_000015.8:g.70424852A>C	NCBI36
NG_009017.1:g.35723T>G
NG_009017.2:g.35723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*175T>G	ENSP00000457521.2:n.*175T>G
ENST00000682061.1:c.*1861T>G	ENSP00000508316.1:n.*1861T>G
ENST00000682064.1:n.1742T>G
ENST00000682177.1:c.1558T>G	ENSP00000507409.1:n.1558T>G
ENST00000682235.1:n.1538T>G
ENST00000682461.1:c.1621T>G	ENSP00000507308.1:n.1621T>G
ENST00000682653.1:n.2519T>G
ENST00000682657.1:c.*1352T>G	ENSP00000507753.1:n.*1352T>G
ENST00000682721.1:c.*1318T>G	ENSP00000507535.1:n.*1318T>G
ENST00000682843.1:c.*1156T>G	ENSP00000508173.1:n.*1156T>G
ENST00000683003.1:c.*1352T>G	ENSP00000507576.1:n.*1352T>G
ENST00000683133.1:c.1699T>G	ENSP00000508108.1:n.1699T>G
ENST00000683243.1:c.*668T>G	ENSP00000507042.1:n.*668T>G
ENST00000683463.1:c.*1004T>G	ENSP00000507986.1:n.*1004T>G
ENST00000683548.1:n.1973T>G
ENST00000683579.1:c.*1413T>G	ENSP00000506867.1:n.*1413T>G
ENST00000683587.1:n.2046T>G
ENST00000683681.1:c.*193T>G	ENSP00000508110.1:n.*193T>G
ENST00000683735.1:c.*1913T>G	ENSP00000508336.1:n.*1913T>G
ENST00000683853.1:c.*320T>G	ENSP00000506834.1:n.*320T>G
ENST00000683860.1:c.*635T>G	ENSP00000507179.1:n.*635T>G
ENST00000683884.1:c.*842T>G	ENSP00000507004.1:n.*842T>G
ENST00000684125.1:c.*175T>G	ENSP00000507320.1:n.*175T>G
ENST00000684203.1:n.3964T>G
ENST00000684231.1:c.*925T>G	ENSP00000507748.1:n.*925T>G
ENST00000684263.1:c.*1139T>G	ENSP00000508369.1:n.*1139T>G
ENST00000684305.1:c.1963T>G	ENSP00000506819.1:n.1963T>G
ENST00000684415.1:c.*1066T>G	ENSP00000507227.1:n.*1066T>G
ENST00000684520.1:c.*774T>G	ENSP00000506826.1:n.*774T>G
ENST00000684602.1:c.*1181T>G	ENSP00000507996.1:n.*1181T>G
ENST00000684667.1:c.1846T>G	ENSP00000507003.1:n.1846T>G
ENST00000268097.10:c.1515T>G MANE Select	ENSP00000268097.6:p.Cys505Trp
ENST00000268097.9:c.1515T>G	ENSP00000268097.5:p.Cys505Trp
ENST00000379915.4:c.597T>G	ENSP00000478716.1:p.Cys199Trp
ENST00000564677.5:n.307T>G
ENST00000565873.1:n.426T>G
ENST00000566304.5:c.1548T>G	ENSP00000455114.1:p.Cys516Trp
ENST00000567027.5:c.1130T>G
ENST00000567159.5:c.1515T>G	ENSP00000456489.1:p.Cys505Trp
ENST00000567411.5:c.*1036T>G	ENSP00000455545.1:n.*1036T>G
ENST00000568777.5:n.6735T>G
ENST00000569116.1:n.222T>G
NM_000520.4:c.1515T>G	NP_000511.2:p.Cys505Trp
NM_000520.5:c.1515T>G	NP_000511.2:p.Cys505Trp
NM_001318825.1:c.1548T>G	NP_001305754.1:p.Cys516Trp
NR_134869.1:n.1759T>G
NM_000520.6:c.1515T>G MANE Select	NP_000511.2:p.Cys505Trp
NM_001318825.2:c.1548T>G	NP_001305754.1:p.Cys516Trp
NR_134869.2:n.1300T>G
NR_134869.3:n.1300T>G