Canonical Allele Identifier: CA393058445

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637792C>G (hg19) ; chr15:g.72345451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345451C>G , CM000677.2:g.72345451C>G	GRCh38
NC_000015.9:g.72637792C>G , CM000677.1:g.72637792C>G	GRCh37
NC_000015.8:g.70424846C>G	NCBI36
NG_009017.1:g.35729G>C
NG_009017.2:g.35729G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*181G>C	ENSP00000457521.2:n.*181G>C
ENST00000682061.1:c.*1867G>C	ENSP00000508316.1:n.*1867G>C
ENST00000682064.1:n.1748G>C
ENST00000682177.1:c.1564G>C	ENSP00000507409.1:n.1564G>C
ENST00000682235.1:n.1544G>C
ENST00000682461.1:c.1627G>C	ENSP00000507308.1:n.1627G>C
ENST00000682653.1:n.2525G>C
ENST00000682657.1:c.*1358G>C	ENSP00000507753.1:n.*1358G>C
ENST00000682721.1:c.*1324G>C	ENSP00000507535.1:n.*1324G>C
ENST00000682843.1:c.*1162G>C	ENSP00000508173.1:n.*1162G>C
ENST00000683003.1:c.*1358G>C	ENSP00000507576.1:n.*1358G>C
ENST00000683133.1:c.1705G>C	ENSP00000508108.1:n.1705G>C
ENST00000683243.1:c.*674G>C	ENSP00000507042.1:n.*674G>C
ENST00000683463.1:c.*1010G>C	ENSP00000507986.1:n.*1010G>C
ENST00000683548.1:n.1979G>C
ENST00000683579.1:c.*1419G>C	ENSP00000506867.1:n.*1419G>C
ENST00000683587.1:n.2052G>C
ENST00000683681.1:c.*199G>C	ENSP00000508110.1:n.*199G>C
ENST00000683735.1:c.*1919G>C	ENSP00000508336.1:n.*1919G>C
ENST00000683853.1:c.*326G>C	ENSP00000506834.1:n.*326G>C
ENST00000683860.1:c.*641G>C	ENSP00000507179.1:n.*641G>C
ENST00000683884.1:c.*848G>C	ENSP00000507004.1:n.*848G>C
ENST00000684125.1:c.*181G>C	ENSP00000507320.1:n.*181G>C
ENST00000684203.1:n.3970G>C
ENST00000684231.1:c.*931G>C	ENSP00000507748.1:n.*931G>C
ENST00000684263.1:c.*1145G>C	ENSP00000508369.1:n.*1145G>C
ENST00000684305.1:c.1969G>C	ENSP00000506819.1:n.1969G>C
ENST00000684415.1:c.*1072G>C	ENSP00000507227.1:n.*1072G>C
ENST00000684520.1:c.*780G>C	ENSP00000506826.1:n.*780G>C
ENST00000684602.1:c.*1187G>C	ENSP00000507996.1:n.*1187G>C
ENST00000684667.1:c.1852G>C	ENSP00000507003.1:n.1852G>C
ENST00000268097.10:c.1521G>C MANE Select	ENSP00000268097.6:p.Leu507Phe
ENST00000268097.9:c.1521G>C	ENSP00000268097.5:p.Leu507Phe
ENST00000379915.4:c.603G>C	ENSP00000478716.1:p.Leu201Phe
ENST00000564677.5:n.313G>C
ENST00000565873.1:n.432G>C
ENST00000566304.5:c.1554G>C	ENSP00000455114.1:p.Leu518Phe
ENST00000567027.5:c.1136G>C
ENST00000567159.5:c.1521G>C	ENSP00000456489.1:p.Leu507Phe
ENST00000567411.5:c.*1042G>C	ENSP00000455545.1:n.*1042G>C
ENST00000568777.5:n.6741G>C
ENST00000569116.1:n.228G>C
NM_000520.4:c.1521G>C	NP_000511.2:p.Leu507Phe
NM_000520.5:c.1521G>C	NP_000511.2:p.Leu507Phe
NM_001318825.1:c.1554G>C	NP_001305754.1:p.Leu518Phe
NR_134869.1:n.1765G>C
NM_000520.6:c.1521G>C MANE Select	NP_000511.2:p.Leu507Phe
NM_001318825.2:c.1554G>C	NP_001305754.1:p.Leu518Phe
NR_134869.2:n.1306G>C
NR_134869.3:n.1306G>C