Canonical Allele Identifier: CA393058532

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637806A>T (hg19) ; chr15:g.72345465A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345465A>T , CM000677.2:g.72345465A>T	GRCh38
NC_000015.9:g.72637806A>T , CM000677.1:g.72637806A>T	GRCh37
NC_000015.8:g.70424860A>T	NCBI36
NG_009017.1:g.35715T>A
NG_009017.2:g.35715T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*167T>A	ENSP00000457521.2:n.*167T>A
ENST00000682061.1:c.*1853T>A	ENSP00000508316.1:n.*1853T>A
ENST00000682064.1:n.1734T>A
ENST00000682177.1:c.1550T>A	ENSP00000507409.1:n.1550T>A
ENST00000682235.1:n.1530T>A
ENST00000682461.1:c.1613T>A	ENSP00000507308.1:n.1613T>A
ENST00000682653.1:n.2511T>A
ENST00000682657.1:c.*1344T>A	ENSP00000507753.1:n.*1344T>A
ENST00000682721.1:c.*1310T>A	ENSP00000507535.1:n.*1310T>A
ENST00000682843.1:c.*1148T>A	ENSP00000508173.1:n.*1148T>A
ENST00000683003.1:c.*1344T>A	ENSP00000507576.1:n.*1344T>A
ENST00000683133.1:c.1691T>A	ENSP00000508108.1:n.1691T>A
ENST00000683243.1:c.*660T>A	ENSP00000507042.1:n.*660T>A
ENST00000683463.1:c.*996T>A	ENSP00000507986.1:n.*996T>A
ENST00000683548.1:n.1965T>A
ENST00000683579.1:c.*1405T>A	ENSP00000506867.1:n.*1405T>A
ENST00000683587.1:n.2038T>A
ENST00000683681.1:c.*185T>A	ENSP00000508110.1:n.*185T>A
ENST00000683735.1:c.*1905T>A	ENSP00000508336.1:n.*1905T>A
ENST00000683853.1:c.*312T>A	ENSP00000506834.1:n.*312T>A
ENST00000683860.1:c.*627T>A	ENSP00000507179.1:n.*627T>A
ENST00000683884.1:c.*834T>A	ENSP00000507004.1:n.*834T>A
ENST00000684125.1:c.*167T>A	ENSP00000507320.1:n.*167T>A
ENST00000684203.1:n.3956T>A
ENST00000684231.1:c.*917T>A	ENSP00000507748.1:n.*917T>A
ENST00000684263.1:c.*1131T>A	ENSP00000508369.1:n.*1131T>A
ENST00000684305.1:c.1955T>A	ENSP00000506819.1:n.1955T>A
ENST00000684415.1:c.*1058T>A	ENSP00000507227.1:n.*1058T>A
ENST00000684520.1:c.*766T>A	ENSP00000506826.1:n.*766T>A
ENST00000684602.1:c.*1173T>A	ENSP00000507996.1:n.*1173T>A
ENST00000684667.1:c.1838T>A	ENSP00000507003.1:n.1838T>A
ENST00000268097.10:c.1507T>A MANE Select	ENSP00000268097.6:p.Phe503Ile
ENST00000268097.9:c.1507T>A	ENSP00000268097.5:p.Phe503Ile
ENST00000379915.4:c.589T>A	ENSP00000478716.1:p.Phe197Ile
ENST00000564677.5:n.299T>A
ENST00000565873.1:n.418T>A
ENST00000566304.5:c.1540T>A	ENSP00000455114.1:p.Phe514Ile
ENST00000567027.5:c.1122T>A
ENST00000567159.5:c.1507T>A	ENSP00000456489.1:p.Phe503Ile
ENST00000567411.5:c.*1028T>A	ENSP00000455545.1:n.*1028T>A
ENST00000568777.5:n.6727T>A
ENST00000569116.1:n.214T>A
NM_000520.4:c.1507T>A	NP_000511.2:p.Phe503Ile
NM_000520.5:c.1507T>A	NP_000511.2:p.Phe503Ile
NM_001318825.1:c.1540T>A	NP_001305754.1:p.Phe514Ile
NR_134869.1:n.1751T>A
NM_000520.6:c.1507T>A MANE Select	NP_000511.2:p.Phe503Ile
NM_001318825.2:c.1540T>A	NP_001305754.1:p.Phe514Ile
NR_134869.2:n.1292T>A
NR_134869.3:n.1292T>A