Canonical Allele Identifier: CA393058736

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637846C>A (hg19) ; chr15:g.72345505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345505C>A , CM000677.2:g.72345505C>A	GRCh38
NC_000015.9:g.72637846C>A , CM000677.1:g.72637846C>A	GRCh37
NC_000015.8:g.70424900C>A	NCBI36
NG_009017.1:g.35675G>T
NG_009017.2:g.35675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*127G>T	ENSP00000457521.2:n.*127G>T
ENST00000682061.1:c.*1813G>T	ENSP00000508316.1:n.*1813G>T
ENST00000682064.1:n.1694G>T
ENST00000682177.1:c.1510G>T	ENSP00000507409.1:n.1510G>T
ENST00000682235.1:n.1490G>T
ENST00000682461.1:c.1573G>T	ENSP00000507308.1:n.1573G>T
ENST00000682653.1:n.2471G>T
ENST00000682657.1:c.*1304G>T	ENSP00000507753.1:n.*1304G>T
ENST00000682721.1:c.*1270G>T	ENSP00000507535.1:n.*1270G>T
ENST00000682843.1:c.*1108G>T	ENSP00000508173.1:n.*1108G>T
ENST00000683003.1:c.*1304G>T	ENSP00000507576.1:n.*1304G>T
ENST00000683133.1:c.1651G>T	ENSP00000508108.1:n.1651G>T
ENST00000683243.1:c.*620G>T	ENSP00000507042.1:n.*620G>T
ENST00000683463.1:c.*956G>T	ENSP00000507986.1:n.*956G>T
ENST00000683548.1:n.1925G>T
ENST00000683579.1:c.*1365G>T	ENSP00000506867.1:n.*1365G>T
ENST00000683587.1:n.1998G>T
ENST00000683681.1:c.*145G>T	ENSP00000508110.1:n.*145G>T
ENST00000683735.1:c.*1865G>T	ENSP00000508336.1:n.*1865G>T
ENST00000683853.1:c.*272G>T	ENSP00000506834.1:n.*272G>T
ENST00000683860.1:c.*587G>T	ENSP00000507179.1:n.*587G>T
ENST00000683884.1:c.*794G>T	ENSP00000507004.1:n.*794G>T
ENST00000684041.1:c.*600G>T	ENSP00000508382.1:n.*600G>T
ENST00000684125.1:c.*127G>T	ENSP00000507320.1:n.*127G>T
ENST00000684203.1:n.3916G>T
ENST00000684231.1:c.*877G>T	ENSP00000507748.1:n.*877G>T
ENST00000684263.1:c.*1091G>T	ENSP00000508369.1:n.*1091G>T
ENST00000684305.1:c.1915G>T	ENSP00000506819.1:n.1915G>T
ENST00000684415.1:c.*1018G>T	ENSP00000507227.1:n.*1018G>T
ENST00000684520.1:c.*726G>T	ENSP00000506826.1:n.*726G>T
ENST00000684602.1:c.*1133G>T	ENSP00000507996.1:n.*1133G>T
ENST00000684667.1:c.1798G>T	ENSP00000507003.1:n.1798G>T
ENST00000268097.10:c.1467G>T MANE Select	ENSP00000268097.6:p.Leu489Phe
ENST00000268097.9:c.1467G>T	ENSP00000268097.5:p.Leu489Phe
ENST00000379915.4:c.549G>T	ENSP00000478716.1:p.Leu183Phe
ENST00000564677.5:n.259G>T
ENST00000565873.1:n.378G>T
ENST00000566304.5:c.1500G>T	ENSP00000455114.1:p.Leu500Phe
ENST00000567027.5:c.1082G>T
ENST00000567159.5:c.1467G>T	ENSP00000456489.1:p.Leu489Phe
ENST00000567411.5:c.*988G>T	ENSP00000455545.1:n.*988G>T
ENST00000568777.5:n.6687G>T
ENST00000569116.1:n.174G>T
NM_000520.4:c.1467G>T	NP_000511.2:p.Leu489Phe
NM_000520.5:c.1467G>T	NP_000511.2:p.Leu489Phe
NM_001318825.1:c.1500G>T	NP_001305754.1:p.Leu500Phe
NR_134869.1:n.1711G>T
NM_000520.6:c.1467G>T MANE Select	NP_000511.2:p.Leu489Phe
NM_001318825.2:c.1500G>T	NP_001305754.1:p.Leu500Phe
NR_134869.2:n.1252G>T
NR_134869.3:n.1252G>T