Canonical Allele Identifier: CA393058851

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637872C>A (hg19) ; chr15:g.72345531C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345531C>A , CM000677.2:g.72345531C>A	GRCh38
NC_000015.9:g.72637872C>A , CM000677.1:g.72637872C>A	GRCh37
NC_000015.8:g.70424926C>A	NCBI36
NG_009017.1:g.35649G>T
NG_009017.2:g.35649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*101G>T	ENSP00000457521.2:n.*101G>T
ENST00000682061.1:c.*1787G>T	ENSP00000508316.1:n.*1787G>T
ENST00000682064.1:n.1668G>T
ENST00000682177.1:c.1484G>T	ENSP00000507409.1:n.1484G>T
ENST00000682235.1:n.1464G>T
ENST00000682461.1:c.1547G>T	ENSP00000507308.1:n.1547G>T
ENST00000682653.1:n.2445G>T
ENST00000682657.1:c.*1278G>T	ENSP00000507753.1:n.*1278G>T
ENST00000682721.1:c.*1244G>T	ENSP00000507535.1:n.*1244G>T
ENST00000682843.1:c.*1082G>T	ENSP00000508173.1:n.*1082G>T
ENST00000683003.1:c.*1278G>T	ENSP00000507576.1:n.*1278G>T
ENST00000683133.1:c.1625G>T	ENSP00000508108.1:n.1625G>T
ENST00000683243.1:c.*594G>T	ENSP00000507042.1:n.*594G>T
ENST00000683463.1:c.*930G>T	ENSP00000507986.1:n.*930G>T
ENST00000683548.1:n.1899G>T
ENST00000683579.1:c.*1339G>T	ENSP00000506867.1:n.*1339G>T
ENST00000683587.1:n.1972G>T
ENST00000683681.1:c.*119G>T	ENSP00000508110.1:n.*119G>T
ENST00000683735.1:c.*1839G>T	ENSP00000508336.1:n.*1839G>T
ENST00000683853.1:c.*246G>T	ENSP00000506834.1:n.*246G>T
ENST00000683860.1:c.*561G>T	ENSP00000507179.1:n.*561G>T
ENST00000683884.1:c.*768G>T	ENSP00000507004.1:n.*768G>T
ENST00000684041.1:c.*574G>T	ENSP00000508382.1:n.*574G>T
ENST00000684125.1:c.*101G>T	ENSP00000507320.1:n.*101G>T
ENST00000684203.1:n.3890G>T
ENST00000684231.1:c.*851G>T	ENSP00000507748.1:n.*851G>T
ENST00000684263.1:c.*1065G>T	ENSP00000508369.1:n.*1065G>T
ENST00000684305.1:c.1889G>T	ENSP00000506819.1:n.1889G>T
ENST00000684415.1:c.*992G>T	ENSP00000507227.1:n.*992G>T
ENST00000684520.1:c.*700G>T	ENSP00000506826.1:n.*700G>T
ENST00000684602.1:c.*1107G>T	ENSP00000507996.1:n.*1107G>T
ENST00000684667.1:c.1772G>T	ENSP00000507003.1:n.1772G>T
ENST00000268097.10:c.1441G>T MANE Select	ENSP00000268097.6:p.Ala481Ser
ENST00000268097.9:c.1441G>T	ENSP00000268097.5:p.Ala481Ser
ENST00000379915.4:c.523G>T	ENSP00000478716.1:p.Ala175Ser
ENST00000564677.5:n.233G>T
ENST00000565873.1:n.352G>T
ENST00000566304.5:c.1474G>T	ENSP00000455114.1:p.Ala492Ser
ENST00000567027.5:c.1056G>T
ENST00000567159.5:c.1441G>T	ENSP00000456489.1:p.Ala481Ser
ENST00000567411.5:c.*962G>T	ENSP00000455545.1:n.*962G>T
ENST00000568777.5:n.6661G>T
ENST00000569116.1:n.148G>T
NM_000520.4:c.1441G>T	NP_000511.2:p.Ala481Ser
NM_000520.5:c.1441G>T	NP_000511.2:p.Ala481Ser
NM_001318825.1:c.1474G>T	NP_001305754.1:p.Ala492Ser
NR_134869.1:n.1685G>T
NM_000520.6:c.1441G>T MANE Select	NP_000511.2:p.Ala481Ser
NM_001318825.2:c.1474G>T	NP_001305754.1:p.Ala492Ser
NR_134869.2:n.1226G>T
NR_134869.3:n.1226G>T