Canonical Allele Identifier: CA393060784

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638940A>G (hg19) ; chr15:g.72346599A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346599A>G , CM000677.2:g.72346599A>G	GRCh38
NC_000015.9:g.72638940A>G , CM000677.1:g.72638940A>G	GRCh37
NC_000015.8:g.70425994A>G	NCBI36
NG_009017.1:g.34581T>C
NG_009017.2:g.34581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-274T>C	ENSP00000457521.2:n.1074-274T>C
ENST00000682061.1:c.*920T>C	ENSP00000508316.1:n.*920T>C
ENST00000682064.1:n.600T>C
ENST00000682177.1:c.1301T>C	ENSP00000507409.1:n.1301T>C
ENST00000682235.1:n.597T>C
ENST00000682461.1:c.1364T>C	ENSP00000507308.1:n.1364T>C
ENST00000682653.1:n.1578T>C
ENST00000682657.1:c.*484-274T>C	ENSP00000507753.1:n.*484-274T>C
ENST00000682721.1:c.*1061T>C	ENSP00000507535.1:n.*1061T>C
ENST00000682843.1:c.*972-274T>C	ENSP00000508173.1:n.*972-274T>C
ENST00000683003.1:c.*484-274T>C	ENSP00000507576.1:n.*484-274T>C
ENST00000683133.1:c.1442T>C	ENSP00000508108.1:n.1442T>C
ENST00000683243.1:c.*484-274T>C	ENSP00000507042.1:n.*484-274T>C
ENST00000683463.1:c.*63T>C	ENSP00000507986.1:n.*63T>C
ENST00000683548.1:n.1105-274T>C
ENST00000683579.1:c.*1156T>C	ENSP00000506867.1:n.*1156T>C
ENST00000683587.1:n.1178-274T>C
ENST00000683681.1:c.1258T>C	ENSP00000508110.1:p.Trp420Arg
ENST00000683735.1:c.*1045-274T>C	ENSP00000508336.1:n.*1045-274T>C
ENST00000683853.1:c.*63T>C	ENSP00000506834.1:n.*63T>C
ENST00000683860.1:c.1258T>C	ENSP00000507179.1:p.Trp420Arg
ENST00000683884.1:c.1147-274T>C	ENSP00000507004.1:n.1147-274T>C
ENST00000684041.1:c.1258T>C	ENSP00000508382.1:p.Trp420Arg
ENST00000684125.1:c.1074-274T>C	ENSP00000507320.1:n.1074-274T>C
ENST00000684203.1:n.3023T>C
ENST00000684231.1:c.*668T>C	ENSP00000507748.1:n.*668T>C
ENST00000684263.1:c.*198T>C	ENSP00000508369.1:n.*198T>C
ENST00000684305.1:c.1706T>C	ENSP00000506819.1:n.1706T>C
ENST00000684415.1:c.*125T>C	ENSP00000507227.1:n.*125T>C
ENST00000684520.1:c.1258T>C	ENSP00000506826.1:p.Trp420Arg
ENST00000684602.1:c.*924T>C	ENSP00000507996.1:n.*924T>C
ENST00000684667.1:c.1589T>C	ENSP00000507003.1:n.1589T>C
ENST00000268097.10:c.1258T>C MANE Select	ENSP00000268097.6:p.Trp420Arg
ENST00000268097.9:c.1258T>C	ENSP00000268097.5:p.Trp420Arg
ENST00000379915.4:c.413-274T>C	ENSP00000478716.1:n.413-274T>C
ENST00000563762.5:c.826-274T>C	ENSP00000456346.1:n.826-274T>C
ENST00000566304.5:c.1291T>C	ENSP00000455114.1:p.Trp431Arg
ENST00000566672.5:c.*668T>C	ENSP00000457037.1:n.*668T>C
ENST00000567027.5:c.946-274T>C
ENST00000567159.5:c.1258T>C	ENSP00000456489.1:p.Trp420Arg
ENST00000567411.5:c.*779T>C	ENSP00000455545.1:n.*779T>C
ENST00000568777.5:n.6551-274T>C
ENST00000569410.5:c.*63T>C	ENSP00000457125.1:n.*63T>C
NM_000520.4:c.1258T>C	NP_000511.2:p.Trp420Arg
NM_000520.5:c.1258T>C	NP_000511.2:p.Trp420Arg
NM_001318825.1:c.1291T>C	NP_001305754.1:p.Trp431Arg
NR_134869.1:n.1575-274T>C
NM_000520.6:c.1258T>C MANE Select	NP_000511.2:p.Trp420Arg
NM_001318825.2:c.1291T>C	NP_001305754.1:p.Trp431Arg
NR_134869.2:n.1116-274T>C
NR_134869.3:n.1116-274T>C