Canonical Allele Identifier: CA393059357

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638653C>A (hg19) ; chr15:g.72346312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346312C>A , CM000677.2:g.72346312C>A	GRCh38
NC_000015.9:g.72638653C>A , CM000677.1:g.72638653C>A	GRCh37
NC_000015.8:g.70425707C>A	NCBI36
NG_009017.1:g.34868G>T
NG_009017.2:g.34868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*4G>T	ENSP00000457521.2:n.*4G>T
ENST00000682061.1:c.*1006G>T	ENSP00000508316.1:n.*1006G>T
ENST00000682064.1:n.887G>T
ENST00000682177.1:c.1387G>T	ENSP00000507409.1:n.1387G>T
ENST00000682235.1:n.683G>T
ENST00000682461.1:c.1450G>T	ENSP00000507308.1:n.1450G>T
ENST00000682653.1:n.1664G>T
ENST00000682657.1:c.*497G>T	ENSP00000507753.1:n.*497G>T
ENST00000682721.1:c.*1147G>T	ENSP00000507535.1:n.*1147G>T
ENST00000682843.1:c.*985G>T	ENSP00000508173.1:n.*985G>T
ENST00000683003.1:c.*497G>T	ENSP00000507576.1:n.*497G>T
ENST00000683133.1:c.1528G>T	ENSP00000508108.1:n.1528G>T
ENST00000683243.1:c.*497G>T	ENSP00000507042.1:n.*497G>T
ENST00000683463.1:c.*149G>T	ENSP00000507986.1:n.*149G>T
ENST00000683548.1:n.1118G>T
ENST00000683579.1:c.*1242G>T	ENSP00000506867.1:n.*1242G>T
ENST00000683587.1:n.1191G>T
ENST00000683681.1:c.1344G>T	ENSP00000508110.1:p.Gln448His
ENST00000683735.1:c.*1058G>T	ENSP00000508336.1:n.*1058G>T
ENST00000683853.1:c.*149G>T	ENSP00000506834.1:n.*149G>T
ENST00000683860.1:c.1344G>T	ENSP00000507179.1:p.Gln448His
ENST00000683884.1:c.1160G>T	ENSP00000507004.1:p.Arg387Ile
ENST00000684041.1:c.1344G>T	ENSP00000508382.1:p.Gln448His
ENST00000684125.1:c.*4G>T	ENSP00000507320.1:n.*4G>T
ENST00000684203.1:n.3109G>T
ENST00000684231.1:c.*754G>T	ENSP00000507748.1:n.*754G>T
ENST00000684263.1:c.*284G>T	ENSP00000508369.1:n.*284G>T
ENST00000684305.1:c.1792G>T	ENSP00000506819.1:n.1792G>T
ENST00000684415.1:c.*211G>T	ENSP00000507227.1:n.*211G>T
ENST00000684520.1:c.1344G>T	ENSP00000506826.1:p.Gln448His
ENST00000684602.1:c.*1010G>T	ENSP00000507996.1:n.*1010G>T
ENST00000684667.1:c.1675G>T	ENSP00000507003.1:n.1675G>T
ENST00000268097.10:c.1344G>T MANE Select	ENSP00000268097.6:p.Gln448His
ENST00000268097.9:c.1344G>T	ENSP00000268097.5:p.Gln448His
ENST00000379915.4:c.426G>T	ENSP00000478716.1:p.Gln142His
ENST00000563762.5:c.839G>T	ENSP00000456346.1:n.839G>T
ENST00000566304.5:c.1377G>T	ENSP00000455114.1:p.Gln459His
ENST00000566672.5:c.*754G>T	ENSP00000457037.1:n.*754G>T
ENST00000567027.5:c.959G>T
ENST00000567159.5:c.1344G>T	ENSP00000456489.1:p.Gln448His
ENST00000567411.5:c.*865G>T	ENSP00000455545.1:n.*865G>T
ENST00000568777.5:n.6564G>T
ENST00000569410.5:c.*149G>T	ENSP00000457125.1:n.*149G>T
NM_000520.4:c.1344G>T	NP_000511.2:p.Gln448His
NM_000520.5:c.1344G>T	NP_000511.2:p.Gln448His
NM_001318825.1:c.1377G>T	NP_001305754.1:p.Gln459His
NR_134869.1:n.1588G>T
NM_000520.6:c.1344G>T MANE Select	NP_000511.2:p.Gln448His
NM_001318825.2:c.1377G>T	NP_001305754.1:p.Gln459His
NR_134869.2:n.1129G>T
NR_134869.3:n.1129G>T