Canonical Allele Identifier: CA393060432

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346548-C-A
• MyVariant Identifiers: chr15:g.72638889C>A (hg19) ; chr15:g.72346548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346548C>A , CM000677.2:g.72346548C>A	GRCh38
NC_000015.9:g.72638889C>A , CM000677.1:g.72638889C>A	GRCh37
NC_000015.8:g.70425943C>A	NCBI36
NG_009017.1:g.34632G>T
NG_009017.2:g.34632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-223G>T	ENSP00000457521.2:n.1074-223G>T
ENST00000682061.1:c.*971G>T	ENSP00000508316.1:n.*971G>T
ENST00000682064.1:n.651G>T
ENST00000682177.1:c.1352G>T	ENSP00000507409.1:n.1352G>T
ENST00000682235.1:n.648G>T
ENST00000682461.1:c.1415G>T	ENSP00000507308.1:n.1415G>T
ENST00000682653.1:n.1629G>T
ENST00000682657.1:c.*484-223G>T	ENSP00000507753.1:n.*484-223G>T
ENST00000682721.1:c.*1112G>T	ENSP00000507535.1:n.*1112G>T
ENST00000682843.1:c.*972-223G>T	ENSP00000508173.1:n.*972-223G>T
ENST00000683003.1:c.*484-223G>T	ENSP00000507576.1:n.*484-223G>T
ENST00000683133.1:c.1493G>T	ENSP00000508108.1:n.1493G>T
ENST00000683243.1:c.*484-223G>T	ENSP00000507042.1:n.*484-223G>T
ENST00000683463.1:c.*114G>T	ENSP00000507986.1:n.*114G>T
ENST00000683548.1:n.1105-223G>T
ENST00000683579.1:c.*1207G>T	ENSP00000506867.1:n.*1207G>T
ENST00000683587.1:n.1178-223G>T
ENST00000683681.1:c.1309G>T	ENSP00000508110.1:p.Val437Leu
ENST00000683735.1:c.*1045-223G>T	ENSP00000508336.1:n.*1045-223G>T
ENST00000683853.1:c.*114G>T	ENSP00000506834.1:n.*114G>T
ENST00000683860.1:c.1309G>T	ENSP00000507179.1:p.Val437Leu
ENST00000683884.1:c.1147-223G>T	ENSP00000507004.1:n.1147-223G>T
ENST00000684041.1:c.1309G>T	ENSP00000508382.1:p.Val437Leu
ENST00000684125.1:c.1074-223G>T	ENSP00000507320.1:n.1074-223G>T
ENST00000684203.1:n.3074G>T
ENST00000684231.1:c.*719G>T	ENSP00000507748.1:n.*719G>T
ENST00000684263.1:c.*249G>T	ENSP00000508369.1:n.*249G>T
ENST00000684305.1:c.1757G>T	ENSP00000506819.1:n.1757G>T
ENST00000684415.1:c.*176G>T	ENSP00000507227.1:n.*176G>T
ENST00000684520.1:c.1309G>T	ENSP00000506826.1:p.Val437Leu
ENST00000684602.1:c.*975G>T	ENSP00000507996.1:n.*975G>T
ENST00000684667.1:c.1640G>T	ENSP00000507003.1:n.1640G>T
ENST00000268097.10:c.1309G>T MANE Select	ENSP00000268097.6:p.Val437Leu
ENST00000268097.9:c.1309G>T	ENSP00000268097.5:p.Val437Leu
ENST00000379915.4:c.413-223G>T	ENSP00000478716.1:n.413-223G>T
ENST00000563762.5:c.826-223G>T	ENSP00000456346.1:n.826-223G>T
ENST00000566304.5:c.1342G>T	ENSP00000455114.1:p.Val448Leu
ENST00000566672.5:c.*719G>T	ENSP00000457037.1:n.*719G>T
ENST00000567027.5:c.946-223G>T
ENST00000567159.5:c.1309G>T	ENSP00000456489.1:p.Val437Leu
ENST00000567411.5:c.*830G>T	ENSP00000455545.1:n.*830G>T
ENST00000568777.5:n.6551-223G>T
ENST00000569410.5:c.*114G>T	ENSP00000457125.1:n.*114G>T
NM_000520.4:c.1309G>T	NP_000511.2:p.Val437Leu
NM_000520.5:c.1309G>T	NP_000511.2:p.Val437Leu
NM_001318825.1:c.1342G>T	NP_001305754.1:p.Val448Leu
NR_134869.1:n.1575-223G>T
NM_000520.6:c.1309G>T MANE Select	NP_000511.2:p.Val437Leu
NM_001318825.2:c.1342G>T	NP_001305754.1:p.Val448Leu
NR_134869.2:n.1116-223G>T
NR_134869.3:n.1116-223G>T