Canonical Allele Identifier: CA393061248

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72639012T>A (hg19) ; chr15:g.72346671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346671T>A , CM000677.2:g.72346671T>A	GRCh38
NC_000015.9:g.72639012T>A , CM000677.1:g.72639012T>A	GRCh37
NC_000015.8:g.70426066T>A	NCBI36
NG_009017.1:g.34509A>T
NG_009017.2:g.34509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-346A>T	ENSP00000457521.2:n.1074-346A>T
ENST00000682061.1:c.*848A>T	ENSP00000508316.1:n.*848A>T
ENST00000682064.1:n.528A>T
ENST00000682177.1:c.1229A>T	ENSP00000507409.1:n.1229A>T
ENST00000682235.1:n.525A>T
ENST00000682461.1:c.1292A>T	ENSP00000507308.1:n.1292A>T
ENST00000682653.1:n.1506A>T
ENST00000682657.1:c.*484-346A>T	ENSP00000507753.1:n.*484-346A>T
ENST00000682721.1:c.*989A>T	ENSP00000507535.1:n.*989A>T
ENST00000682843.1:c.*972-346A>T	ENSP00000508173.1:n.*972-346A>T
ENST00000683003.1:c.*484-346A>T	ENSP00000507576.1:n.*484-346A>T
ENST00000683133.1:c.1370A>T	ENSP00000508108.1:n.1370A>T
ENST00000683243.1:c.*484-346A>T	ENSP00000507042.1:n.*484-346A>T
ENST00000683463.1:c.1113A>T	ENSP00000507986.1:p.Ile371=
ENST00000683548.1:n.1105-346A>T
ENST00000683579.1:c.*1084A>T	ENSP00000506867.1:n.*1084A>T
ENST00000683587.1:n.1178-346A>T
ENST00000683681.1:c.1186A>T	ENSP00000508110.1:p.Ile396Phe
ENST00000683735.1:c.*1045-346A>T	ENSP00000508336.1:n.*1045-346A>T
ENST00000683853.1:c.1113A>T	ENSP00000506834.1:p.Ile371=
ENST00000683860.1:c.1186A>T	ENSP00000507179.1:p.Ile396Phe
ENST00000683884.1:c.1147-346A>T	ENSP00000507004.1:n.1147-346A>T
ENST00000684041.1:c.1186A>T	ENSP00000508382.1:p.Ile396Phe
ENST00000684125.1:c.1074-346A>T	ENSP00000507320.1:n.1074-346A>T
ENST00000684203.1:n.2951A>T
ENST00000684231.1:c.*596A>T	ENSP00000507748.1:n.*596A>T
ENST00000684263.1:c.*126A>T	ENSP00000508369.1:n.*126A>T
ENST00000684305.1:c.1634A>T	ENSP00000506819.1:n.1634A>T
ENST00000684415.1:c.*53A>T	ENSP00000507227.1:n.*53A>T
ENST00000684520.1:c.1186A>T	ENSP00000506826.1:p.Ile396Phe
ENST00000684602.1:c.*852A>T	ENSP00000507996.1:n.*852A>T
ENST00000684667.1:c.1517A>T	ENSP00000507003.1:n.1517A>T
ENST00000268097.10:c.1186A>T MANE Select	ENSP00000268097.6:p.Ile396Phe
ENST00000268097.9:c.1186A>T	ENSP00000268097.5:p.Ile396Phe
ENST00000379915.4:c.413-346A>T	ENSP00000478716.1:n.413-346A>T
ENST00000563762.5:c.826-346A>T	ENSP00000456346.1:n.826-346A>T
ENST00000566304.5:c.1219A>T	ENSP00000455114.1:p.Ile407Phe
ENST00000566672.5:c.*596A>T	ENSP00000457037.1:n.*596A>T
ENST00000567027.5:c.946-346A>T
ENST00000567159.5:c.1186A>T	ENSP00000456489.1:p.Ile396Phe
ENST00000567411.5:c.*707A>T	ENSP00000455545.1:n.*707A>T
ENST00000568777.5:n.6551-346A>T
ENST00000569410.5:c.1113A>T	ENSP00000457125.1:p.Ile371=
NM_000520.4:c.1186A>T	NP_000511.2:p.Ile396Phe
NM_000520.5:c.1186A>T	NP_000511.2:p.Ile396Phe
NM_001318825.1:c.1219A>T	NP_001305754.1:p.Ile407Phe
NR_134869.1:n.1575-346A>T
NM_000520.6:c.1186A>T MANE Select	NP_000511.2:p.Ile396Phe
NM_001318825.2:c.1219A>T	NP_001305754.1:p.Ile407Phe
NR_134869.2:n.1116-346A>T
NR_134869.3:n.1116-346A>T