Canonical Allele Identifier: CA393061494

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72639050A>G (hg19) ; chr15:g.72346709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346709A>G , CM000677.2:g.72346709A>G	GRCh38
NC_000015.9:g.72639050A>G , CM000677.1:g.72639050A>G	GRCh37
NC_000015.8:g.70426104A>G	NCBI36
NG_009017.1:g.34471T>C
NG_009017.2:g.34471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-384T>C	ENSP00000457521.2:n.1074-384T>C
ENST00000682061.1:c.*810T>C	ENSP00000508316.1:n.*810T>C
ENST00000682064.1:n.490T>C
ENST00000682177.1:c.1191T>C	ENSP00000507409.1:n.1191T>C
ENST00000682235.1:n.487T>C
ENST00000682461.1:c.1254T>C	ENSP00000507308.1:n.1254T>C
ENST00000682653.1:n.1468T>C
ENST00000682657.1:c.*484-384T>C	ENSP00000507753.1:n.*484-384T>C
ENST00000682721.1:c.*951T>C	ENSP00000507535.1:n.*951T>C
ENST00000682843.1:c.*972-384T>C	ENSP00000508173.1:n.*972-384T>C
ENST00000683003.1:c.*484-384T>C	ENSP00000507576.1:n.*484-384T>C
ENST00000683133.1:c.1332T>C	ENSP00000508108.1:n.1332T>C
ENST00000683243.1:c.*484-384T>C	ENSP00000507042.1:n.*484-384T>C
ENST00000683463.1:c.1075T>C	ENSP00000507986.1:p.Phe359Leu
ENST00000683548.1:n.1105-384T>C
ENST00000683579.1:c.*1046T>C	ENSP00000506867.1:n.*1046T>C
ENST00000683587.1:n.1178-384T>C
ENST00000683681.1:c.1148T>C	ENSP00000508110.1:p.Ile383Thr
ENST00000683735.1:c.*1045-384T>C	ENSP00000508336.1:n.*1045-384T>C
ENST00000683853.1:c.1075T>C	ENSP00000506834.1:p.Phe359Leu
ENST00000683860.1:c.1148T>C	ENSP00000507179.1:p.Ile383Thr
ENST00000683884.1:c.1147-384T>C	ENSP00000507004.1:n.1147-384T>C
ENST00000684041.1:c.1148T>C	ENSP00000508382.1:p.Ile383Thr
ENST00000684125.1:c.1074-384T>C	ENSP00000507320.1:n.1074-384T>C
ENST00000684203.1:n.2913T>C
ENST00000684231.1:c.*558T>C	ENSP00000507748.1:n.*558T>C
ENST00000684263.1:c.*88T>C	ENSP00000508369.1:n.*88T>C
ENST00000684305.1:c.1596T>C	ENSP00000506819.1:n.1596T>C
ENST00000684415.1:c.*15T>C	ENSP00000507227.1:n.*15T>C
ENST00000684520.1:c.1148T>C	ENSP00000506826.1:p.Ile383Thr
ENST00000684602.1:c.*814T>C	ENSP00000507996.1:n.*814T>C
ENST00000684667.1:c.1479T>C	ENSP00000507003.1:n.1479T>C
ENST00000268097.10:c.1148T>C MANE Select	ENSP00000268097.6:p.Ile383Thr
ENST00000268097.9:c.1148T>C	ENSP00000268097.5:p.Ile383Thr
ENST00000379915.4:c.413-384T>C	ENSP00000478716.1:n.413-384T>C
ENST00000563762.5:c.826-384T>C	ENSP00000456346.1:n.826-384T>C
ENST00000566304.5:c.1181T>C	ENSP00000455114.1:p.Ile394Thr
ENST00000566672.5:c.*558T>C	ENSP00000457037.1:n.*558T>C
ENST00000567027.5:c.946-384T>C
ENST00000567159.5:c.1148T>C	ENSP00000456489.1:p.Ile383Thr
ENST00000567411.5:c.*669T>C	ENSP00000455545.1:n.*669T>C
ENST00000568777.5:n.6551-384T>C
ENST00000569410.5:c.1075T>C	ENSP00000457125.1:p.Phe359Leu
NM_000520.4:c.1148T>C	NP_000511.2:p.Ile383Thr
NM_000520.5:c.1148T>C	NP_000511.2:p.Ile383Thr
NM_001318825.1:c.1181T>C	NP_001305754.1:p.Ile394Thr
NR_134869.1:n.1575-384T>C
NM_000520.6:c.1148T>C MANE Select	NP_000511.2:p.Ile383Thr
NM_001318825.2:c.1181T>C	NP_001305754.1:p.Ile394Thr
NR_134869.2:n.1116-384T>C
NR_134869.3:n.1116-384T>C