Canonical Allele Identifier: CA393058754

Gene: HEXA

Linked Data

• dbSNP Id: rs2088600481
• MyVariant Identifiers: chr15:g.72637850T>G (hg19) ; chr15:g.72345509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345509T>G , CM000677.2:g.72345509T>G	GRCh38
NC_000015.9:g.72637850T>G , CM000677.1:g.72637850T>G	GRCh37
NC_000015.8:g.70424904T>G	NCBI36
NG_009017.1:g.35671A>C
NG_009017.2:g.35671A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*123A>C	ENSP00000457521.2:n.*123A>C
ENST00000682061.1:c.*1809A>C	ENSP00000508316.1:n.*1809A>C
ENST00000682064.1:n.1690A>C
ENST00000682177.1:c.1506A>C	ENSP00000507409.1:n.1506A>C
ENST00000682235.1:n.1486A>C
ENST00000682461.1:c.1569A>C	ENSP00000507308.1:n.1569A>C
ENST00000682653.1:n.2467A>C
ENST00000682657.1:c.*1300A>C	ENSP00000507753.1:n.*1300A>C
ENST00000682721.1:c.*1266A>C	ENSP00000507535.1:n.*1266A>C
ENST00000682843.1:c.*1104A>C	ENSP00000508173.1:n.*1104A>C
ENST00000683003.1:c.*1300A>C	ENSP00000507576.1:n.*1300A>C
ENST00000683133.1:c.1647A>C	ENSP00000508108.1:n.1647A>C
ENST00000683243.1:c.*616A>C	ENSP00000507042.1:n.*616A>C
ENST00000683463.1:c.*952A>C	ENSP00000507986.1:n.*952A>C
ENST00000683548.1:n.1921A>C
ENST00000683579.1:c.*1361A>C	ENSP00000506867.1:n.*1361A>C
ENST00000683587.1:n.1994A>C
ENST00000683681.1:c.*141A>C	ENSP00000508110.1:n.*141A>C
ENST00000683735.1:c.*1861A>C	ENSP00000508336.1:n.*1861A>C
ENST00000683853.1:c.*268A>C	ENSP00000506834.1:n.*268A>C
ENST00000683860.1:c.*583A>C	ENSP00000507179.1:n.*583A>C
ENST00000683884.1:c.*790A>C	ENSP00000507004.1:n.*790A>C
ENST00000684041.1:c.*596A>C	ENSP00000508382.1:n.*596A>C
ENST00000684125.1:c.*123A>C	ENSP00000507320.1:n.*123A>C
ENST00000684203.1:n.3912A>C
ENST00000684231.1:c.*873A>C	ENSP00000507748.1:n.*873A>C
ENST00000684263.1:c.*1087A>C	ENSP00000508369.1:n.*1087A>C
ENST00000684305.1:c.1911A>C	ENSP00000506819.1:n.1911A>C
ENST00000684415.1:c.*1014A>C	ENSP00000507227.1:n.*1014A>C
ENST00000684520.1:c.*722A>C	ENSP00000506826.1:n.*722A>C
ENST00000684602.1:c.*1129A>C	ENSP00000507996.1:n.*1129A>C
ENST00000684667.1:c.1794A>C	ENSP00000507003.1:n.1794A>C
ENST00000268097.10:c.1463A>C MANE Select	ENSP00000268097.6:p.Lys488Thr
ENST00000268097.9:c.1463A>C	ENSP00000268097.5:p.Lys488Thr
ENST00000379915.4:c.545A>C	ENSP00000478716.1:p.Lys182Thr
ENST00000564677.5:n.255A>C
ENST00000565873.1:n.374A>C
ENST00000566304.5:c.1496A>C	ENSP00000455114.1:p.Lys499Thr
ENST00000567027.5:c.1078A>C
ENST00000567159.5:c.1463A>C	ENSP00000456489.1:p.Lys488Thr
ENST00000567411.5:c.*984A>C	ENSP00000455545.1:n.*984A>C
ENST00000568777.5:n.6683A>C
ENST00000569116.1:n.170A>C
NM_000520.4:c.1463A>C	NP_000511.2:p.Lys488Thr
NM_000520.5:c.1463A>C	NP_000511.2:p.Lys488Thr
NM_001318825.1:c.1496A>C	NP_001305754.1:p.Lys499Thr
NR_134869.1:n.1707A>C
NM_000520.6:c.1463A>C MANE Select	NP_000511.2:p.Lys488Thr
NM_001318825.2:c.1496A>C	NP_001305754.1:p.Lys499Thr
NR_134869.2:n.1248A>C
NR_134869.3:n.1248A>C