Canonical Allele Identifier: CA393059388

Gene: HEXA

Linked Data

• ClinVar Variation Id: 618678
• ClinVar RCV Id: RCV000757371
• dbSNP Id: rs939203533
• MyVariant Identifiers: chr15:g.72638660G>C (hg19) ; chr15:g.72346319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346319G>C , CM000677.2:g.72346319G>C	GRCh38
NC_000015.9:g.72638660G>C , CM000677.1:g.72638660G>C	GRCh37
NC_000015.8:g.70425714G>C	NCBI36
NG_009017.1:g.34861C>G
NG_009017.2:g.34861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1080C>G	ENSP00000457521.2:p.Pro360=
ENST00000682061.1:c.*999C>G	ENSP00000508316.1:n.*999C>G
ENST00000682064.1:n.880C>G
ENST00000682177.1:c.1380C>G	ENSP00000507409.1:n.1380C>G
ENST00000682235.1:n.676C>G
ENST00000682461.1:c.1443C>G	ENSP00000507308.1:n.1443C>G
ENST00000682653.1:n.1657C>G
ENST00000682657.1:c.*490C>G	ENSP00000507753.1:n.*490C>G
ENST00000682721.1:c.*1140C>G	ENSP00000507535.1:n.*1140C>G
ENST00000682843.1:c.*978C>G	ENSP00000508173.1:n.*978C>G
ENST00000683003.1:c.*490C>G	ENSP00000507576.1:n.*490C>G
ENST00000683133.1:c.1521C>G	ENSP00000508108.1:n.1521C>G
ENST00000683243.1:c.*490C>G	ENSP00000507042.1:n.*490C>G
ENST00000683463.1:c.*142C>G	ENSP00000507986.1:n.*142C>G
ENST00000683548.1:n.1111C>G
ENST00000683579.1:c.*1235C>G	ENSP00000506867.1:n.*1235C>G
ENST00000683587.1:n.1184C>G
ENST00000683681.1:c.1337C>G	ENSP00000508110.1:p.Pro446Arg
ENST00000683735.1:c.*1051C>G	ENSP00000508336.1:n.*1051C>G
ENST00000683853.1:c.*142C>G	ENSP00000506834.1:n.*142C>G
ENST00000683860.1:c.1337C>G	ENSP00000507179.1:p.Pro446Arg
ENST00000683884.1:c.1153C>G	ENSP00000507004.1:p.Leu385Val
ENST00000684041.1:c.1337C>G	ENSP00000508382.1:p.Pro446Arg
ENST00000684125.1:c.1080C>G	ENSP00000507320.1:p.Pro360=
ENST00000684203.1:n.3102C>G
ENST00000684231.1:c.*747C>G	ENSP00000507748.1:n.*747C>G
ENST00000684263.1:c.*277C>G	ENSP00000508369.1:n.*277C>G
ENST00000684305.1:c.1785C>G	ENSP00000506819.1:n.1785C>G
ENST00000684415.1:c.*204C>G	ENSP00000507227.1:n.*204C>G
ENST00000684520.1:c.1337C>G	ENSP00000506826.1:p.Pro446Arg
ENST00000684602.1:c.*1003C>G	ENSP00000507996.1:n.*1003C>G
ENST00000684667.1:c.1668C>G	ENSP00000507003.1:n.1668C>G
ENST00000268097.10:c.1337C>G MANE Select	ENSP00000268097.6:p.Pro446Arg
ENST00000268097.9:c.1337C>G	ENSP00000268097.5:p.Pro446Arg
ENST00000379915.4:c.419C>G	ENSP00000478716.1:p.Pro140Arg
ENST00000563762.5:c.832C>G	ENSP00000456346.1:n.832C>G
ENST00000566304.5:c.1370C>G	ENSP00000455114.1:p.Pro457Arg
ENST00000566672.5:c.*747C>G	ENSP00000457037.1:n.*747C>G
ENST00000567027.5:c.952C>G
ENST00000567159.5:c.1337C>G	ENSP00000456489.1:p.Pro446Arg
ENST00000567411.5:c.*858C>G	ENSP00000455545.1:n.*858C>G
ENST00000568777.5:n.6557C>G
ENST00000569410.5:c.*142C>G	ENSP00000457125.1:n.*142C>G
NM_000520.4:c.1337C>G	NP_000511.2:p.Pro446Arg
NM_000520.5:c.1337C>G	NP_000511.2:p.Pro446Arg
NM_001318825.1:c.1370C>G	NP_001305754.1:p.Pro457Arg
NR_134869.1:n.1581C>G
NM_000520.6:c.1337C>G MANE Select	NP_000511.2:p.Pro446Arg
NM_001318825.2:c.1370C>G	NP_001305754.1:p.Pro457Arg
NR_134869.2:n.1122C>G
NR_134869.3:n.1122C>G