Canonical Allele Identifier: CA393058796

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637858C>A (hg19) ; chr15:g.72345517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345517C>A , CM000677.2:g.72345517C>A	GRCh38
NC_000015.9:g.72637858C>A , CM000677.1:g.72637858C>A	GRCh37
NC_000015.8:g.70424912C>A	NCBI36
NG_009017.1:g.35663G>T
NG_009017.2:g.35663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*115G>T	ENSP00000457521.2:n.*115G>T
ENST00000682061.1:c.*1801G>T	ENSP00000508316.1:n.*1801G>T
ENST00000682064.1:n.1682G>T
ENST00000682177.1:c.1498G>T	ENSP00000507409.1:n.1498G>T
ENST00000682235.1:n.1478G>T
ENST00000682461.1:c.1561G>T	ENSP00000507308.1:n.1561G>T
ENST00000682653.1:n.2459G>T
ENST00000682657.1:c.*1292G>T	ENSP00000507753.1:n.*1292G>T
ENST00000682721.1:c.*1258G>T	ENSP00000507535.1:n.*1258G>T
ENST00000682843.1:c.*1096G>T	ENSP00000508173.1:n.*1096G>T
ENST00000683003.1:c.*1292G>T	ENSP00000507576.1:n.*1292G>T
ENST00000683133.1:c.1639G>T	ENSP00000508108.1:n.1639G>T
ENST00000683243.1:c.*608G>T	ENSP00000507042.1:n.*608G>T
ENST00000683463.1:c.*944G>T	ENSP00000507986.1:n.*944G>T
ENST00000683548.1:n.1913G>T
ENST00000683579.1:c.*1353G>T	ENSP00000506867.1:n.*1353G>T
ENST00000683587.1:n.1986G>T
ENST00000683681.1:c.*133G>T	ENSP00000508110.1:n.*133G>T
ENST00000683735.1:c.*1853G>T	ENSP00000508336.1:n.*1853G>T
ENST00000683853.1:c.*260G>T	ENSP00000506834.1:n.*260G>T
ENST00000683860.1:c.*575G>T	ENSP00000507179.1:n.*575G>T
ENST00000683884.1:c.*782G>T	ENSP00000507004.1:n.*782G>T
ENST00000684041.1:c.*588G>T	ENSP00000508382.1:n.*588G>T
ENST00000684125.1:c.*115G>T	ENSP00000507320.1:n.*115G>T
ENST00000684203.1:n.3904G>T
ENST00000684231.1:c.*865G>T	ENSP00000507748.1:n.*865G>T
ENST00000684263.1:c.*1079G>T	ENSP00000508369.1:n.*1079G>T
ENST00000684305.1:c.1903G>T	ENSP00000506819.1:n.1903G>T
ENST00000684415.1:c.*1006G>T	ENSP00000507227.1:n.*1006G>T
ENST00000684520.1:c.*714G>T	ENSP00000506826.1:n.*714G>T
ENST00000684602.1:c.*1121G>T	ENSP00000507996.1:n.*1121G>T
ENST00000684667.1:c.1786G>T	ENSP00000507003.1:n.1786G>T
ENST00000268097.10:c.1455G>T MANE Select	ENSP00000268097.6:p.Trp485Cys
ENST00000268097.9:c.1455G>T	ENSP00000268097.5:p.Trp485Cys
ENST00000379915.4:c.537G>T	ENSP00000478716.1:p.Trp179Cys
ENST00000564677.5:n.247G>T
ENST00000565873.1:n.366G>T
ENST00000566304.5:c.1488G>T	ENSP00000455114.1:p.Trp496Cys
ENST00000567027.5:c.1070G>T
ENST00000567159.5:c.1455G>T	ENSP00000456489.1:p.Trp485Cys
ENST00000567411.5:c.*976G>T	ENSP00000455545.1:n.*976G>T
ENST00000568777.5:n.6675G>T
ENST00000569116.1:n.162G>T
NM_000520.4:c.1455G>T	NP_000511.2:p.Trp485Cys
NM_000520.5:c.1455G>T	NP_000511.2:p.Trp485Cys
NM_001318825.1:c.1488G>T	NP_001305754.1:p.Trp496Cys
NR_134869.1:n.1699G>T
NM_000520.6:c.1455G>T MANE Select	NP_000511.2:p.Trp485Cys
NM_001318825.2:c.1488G>T	NP_001305754.1:p.Trp496Cys
NR_134869.2:n.1240G>T
NR_134869.3:n.1240G>T