Canonical Allele Identifier: CA491117532

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638986C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346645C>G , CM000677.2:g.72346645C>G	GRCh38
NC_000015.9:g.72638986C>G , CM000677.1:g.72638986C>G	GRCh37
NC_000015.8:g.70426040C>G	NCBI36
NG_009017.1:g.34535G>C
NG_009017.2:g.34535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-320G>C	ENSP00000457521.2:n.1074-320G>C
ENST00000682061.1:c.*874G>C	ENSP00000508316.1:n.*874G>C
ENST00000682064.1:n.554G>C
ENST00000682177.1:c.1255G>C	ENSP00000507409.1:n.1255G>C
ENST00000682235.1:n.551G>C
ENST00000682461.1:c.1318G>C	ENSP00000507308.1:n.1318G>C
ENST00000682653.1:n.1532G>C
ENST00000682657.1:c.*484-320G>C	ENSP00000507753.1:n.*484-320G>C
ENST00000682721.1:c.*1015G>C	ENSP00000507535.1:n.*1015G>C
ENST00000682843.1:c.*972-320G>C	ENSP00000508173.1:n.*972-320G>C
ENST00000683003.1:c.*484-320G>C	ENSP00000507576.1:n.*484-320G>C
ENST00000683133.1:c.1396G>C	ENSP00000508108.1:n.1396G>C
ENST00000683243.1:c.*484-320G>C	ENSP00000507042.1:n.*484-320G>C
ENST00000683463.1:c.*17G>C	ENSP00000507986.1:n.*17G>C
ENST00000683548.1:n.1105-320G>C
ENST00000683579.1:c.*1110G>C	ENSP00000506867.1:n.*1110G>C
ENST00000683587.1:n.1178-320G>C
ENST00000683681.1:c.1212G>C	ENSP00000508110.1:p.Leu404=
ENST00000683735.1:c.*1045-320G>C	ENSP00000508336.1:n.*1045-320G>C
ENST00000683853.1:c.*17G>C	ENSP00000506834.1:n.*17G>C
ENST00000683860.1:c.1212G>C	ENSP00000507179.1:p.Leu404=
ENST00000683884.1:c.1147-320G>C	ENSP00000507004.1:n.1147-320G>C
ENST00000684041.1:c.1212G>C	ENSP00000508382.1:p.Leu404=
ENST00000684125.1:c.1074-320G>C	ENSP00000507320.1:n.1074-320G>C
ENST00000684203.1:n.2977G>C
ENST00000684231.1:c.*622G>C	ENSP00000507748.1:n.*622G>C
ENST00000684263.1:c.*152G>C	ENSP00000508369.1:n.*152G>C
ENST00000684305.1:c.1660G>C	ENSP00000506819.1:n.1660G>C
ENST00000684415.1:c.*79G>C	ENSP00000507227.1:n.*79G>C
ENST00000684520.1:c.1212G>C	ENSP00000506826.1:p.Leu404=
ENST00000684602.1:c.*878G>C	ENSP00000507996.1:n.*878G>C
ENST00000684667.1:c.1543G>C	ENSP00000507003.1:n.1543G>C
ENST00000268097.10:c.1212G>C MANE Select	ENSP00000268097.6:p.Leu404=
ENST00000268097.9:c.1212G>C	ENSP00000268097.5:p.Leu404=
ENST00000379915.4:c.413-320G>C	ENSP00000478716.1:n.413-320G>C
ENST00000563762.5:c.826-320G>C	ENSP00000456346.1:n.826-320G>C
ENST00000566304.5:c.1245G>C	ENSP00000455114.1:p.Leu415=
ENST00000566672.5:c.*622G>C	ENSP00000457037.1:n.*622G>C
ENST00000567027.5:c.946-320G>C
ENST00000567159.5:c.1212G>C	ENSP00000456489.1:p.Leu404=
ENST00000567411.5:c.*733G>C	ENSP00000455545.1:n.*733G>C
ENST00000568777.5:n.6551-320G>C
ENST00000569410.5:c.*17G>C	ENSP00000457125.1:n.*17G>C
NM_000520.4:c.1212G>C	NP_000511.2:p.Leu404=
NM_000520.5:c.1212G>C	NP_000511.2:p.Leu404=
NM_001318825.1:c.1245G>C	NP_001305754.1:p.Leu415=
NR_134869.1:n.1575-320G>C
NM_000520.6:c.1212G>C MANE Select	NP_000511.2:p.Leu404=
NM_001318825.2:c.1245G>C	NP_001305754.1:p.Leu415=
NR_134869.2:n.1116-320G>C
NR_134869.3:n.1116-320G>C