Canonical Allele Identifier: CA393058792

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637857T>G (hg19) ; chr15:g.72345516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345516T>G , CM000677.2:g.72345516T>G	GRCh38
NC_000015.9:g.72637857T>G , CM000677.1:g.72637857T>G	GRCh37
NC_000015.8:g.70424911T>G	NCBI36
NG_009017.1:g.35664A>C
NG_009017.2:g.35664A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*116A>C	ENSP00000457521.2:n.*116A>C
ENST00000682061.1:c.*1802A>C	ENSP00000508316.1:n.*1802A>C
ENST00000682064.1:n.1683A>C
ENST00000682177.1:c.1499A>C	ENSP00000507409.1:n.1499A>C
ENST00000682235.1:n.1479A>C
ENST00000682461.1:c.1562A>C	ENSP00000507308.1:n.1562A>C
ENST00000682653.1:n.2460A>C
ENST00000682657.1:c.*1293A>C	ENSP00000507753.1:n.*1293A>C
ENST00000682721.1:c.*1259A>C	ENSP00000507535.1:n.*1259A>C
ENST00000682843.1:c.*1097A>C	ENSP00000508173.1:n.*1097A>C
ENST00000683003.1:c.*1293A>C	ENSP00000507576.1:n.*1293A>C
ENST00000683133.1:c.1640A>C	ENSP00000508108.1:n.1640A>C
ENST00000683243.1:c.*609A>C	ENSP00000507042.1:n.*609A>C
ENST00000683463.1:c.*945A>C	ENSP00000507986.1:n.*945A>C
ENST00000683548.1:n.1914A>C
ENST00000683579.1:c.*1354A>C	ENSP00000506867.1:n.*1354A>C
ENST00000683587.1:n.1987A>C
ENST00000683681.1:c.*134A>C	ENSP00000508110.1:n.*134A>C
ENST00000683735.1:c.*1854A>C	ENSP00000508336.1:n.*1854A>C
ENST00000683853.1:c.*261A>C	ENSP00000506834.1:n.*261A>C
ENST00000683860.1:c.*576A>C	ENSP00000507179.1:n.*576A>C
ENST00000683884.1:c.*783A>C	ENSP00000507004.1:n.*783A>C
ENST00000684041.1:c.*589A>C	ENSP00000508382.1:n.*589A>C
ENST00000684125.1:c.*116A>C	ENSP00000507320.1:n.*116A>C
ENST00000684203.1:n.3905A>C
ENST00000684231.1:c.*866A>C	ENSP00000507748.1:n.*866A>C
ENST00000684263.1:c.*1080A>C	ENSP00000508369.1:n.*1080A>C
ENST00000684305.1:c.1904A>C	ENSP00000506819.1:n.1904A>C
ENST00000684415.1:c.*1007A>C	ENSP00000507227.1:n.*1007A>C
ENST00000684520.1:c.*715A>C	ENSP00000506826.1:n.*715A>C
ENST00000684602.1:c.*1122A>C	ENSP00000507996.1:n.*1122A>C
ENST00000684667.1:c.1787A>C	ENSP00000507003.1:n.1787A>C
ENST00000268097.10:c.1456A>C MANE Select	ENSP00000268097.6:p.Ser486Arg
ENST00000268097.9:c.1456A>C	ENSP00000268097.5:p.Ser486Arg
ENST00000379915.4:c.538A>C	ENSP00000478716.1:p.Ser180Arg
ENST00000564677.5:n.248A>C
ENST00000565873.1:n.367A>C
ENST00000566304.5:c.1489A>C	ENSP00000455114.1:p.Ser497Arg
ENST00000567027.5:c.1071A>C
ENST00000567159.5:c.1456A>C	ENSP00000456489.1:p.Ser486Arg
ENST00000567411.5:c.*977A>C	ENSP00000455545.1:n.*977A>C
ENST00000568777.5:n.6676A>C
ENST00000569116.1:n.163A>C
NM_000520.4:c.1456A>C	NP_000511.2:p.Ser486Arg
NM_000520.5:c.1456A>C	NP_000511.2:p.Ser486Arg
NM_001318825.1:c.1489A>C	NP_001305754.1:p.Ser497Arg
NR_134869.1:n.1700A>C
NM_000520.6:c.1456A>C MANE Select	NP_000511.2:p.Ser486Arg
NM_001318825.2:c.1489A>C	NP_001305754.1:p.Ser497Arg
NR_134869.2:n.1241A>C
NR_134869.3:n.1241A>C