Canonical Allele Identifier: CA393058908

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345545-C-G
• COSMIC: COSM1937329
• MyVariant Identifiers: chr15:g.72637886C>G (hg19) ; chr15:g.72345545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345545C>G , CM000677.2:g.72345545C>G	GRCh38
NC_000015.9:g.72637886C>G , CM000677.1:g.72637886C>G	GRCh37
NC_000015.8:g.70424940C>G	NCBI36
NG_009017.1:g.35635G>C
NG_009017.2:g.35635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*87G>C	ENSP00000457521.2:n.*87G>C
ENST00000682061.1:c.*1773G>C	ENSP00000508316.1:n.*1773G>C
ENST00000682064.1:n.1654G>C
ENST00000682177.1:c.1470G>C	ENSP00000507409.1:n.1470G>C
ENST00000682235.1:n.1450G>C
ENST00000682461.1:c.1533G>C	ENSP00000507308.1:n.1533G>C
ENST00000682653.1:n.2431G>C
ENST00000682657.1:c.*1264G>C	ENSP00000507753.1:n.*1264G>C
ENST00000682721.1:c.*1230G>C	ENSP00000507535.1:n.*1230G>C
ENST00000682843.1:c.*1068G>C	ENSP00000508173.1:n.*1068G>C
ENST00000683003.1:c.*1264G>C	ENSP00000507576.1:n.*1264G>C
ENST00000683133.1:c.1611G>C	ENSP00000508108.1:n.1611G>C
ENST00000683243.1:c.*580G>C	ENSP00000507042.1:n.*580G>C
ENST00000683463.1:c.*916G>C	ENSP00000507986.1:n.*916G>C
ENST00000683548.1:n.1885G>C
ENST00000683579.1:c.*1325G>C	ENSP00000506867.1:n.*1325G>C
ENST00000683587.1:n.1958G>C
ENST00000683681.1:c.*105G>C	ENSP00000508110.1:n.*105G>C
ENST00000683735.1:c.*1825G>C	ENSP00000508336.1:n.*1825G>C
ENST00000683853.1:c.*232G>C	ENSP00000506834.1:n.*232G>C
ENST00000683860.1:c.*547G>C	ENSP00000507179.1:n.*547G>C
ENST00000683884.1:c.*754G>C	ENSP00000507004.1:n.*754G>C
ENST00000684041.1:c.*560G>C	ENSP00000508382.1:n.*560G>C
ENST00000684125.1:c.*87G>C	ENSP00000507320.1:n.*87G>C
ENST00000684203.1:n.3876G>C
ENST00000684231.1:c.*837G>C	ENSP00000507748.1:n.*837G>C
ENST00000684263.1:c.*1051G>C	ENSP00000508369.1:n.*1051G>C
ENST00000684305.1:c.1875G>C	ENSP00000506819.1:n.1875G>C
ENST00000684415.1:c.*978G>C	ENSP00000507227.1:n.*978G>C
ENST00000684520.1:c.*686G>C	ENSP00000506826.1:n.*686G>C
ENST00000684602.1:c.*1093G>C	ENSP00000507996.1:n.*1093G>C
ENST00000684667.1:c.1758G>C	ENSP00000507003.1:n.1758G>C
ENST00000268097.10:c.1427G>C MANE Select	ENSP00000268097.6:p.Arg476Thr
ENST00000268097.9:c.1427G>C	ENSP00000268097.5:p.Arg476Thr
ENST00000379915.4:c.509G>C	ENSP00000478716.1:p.Arg170Thr
ENST00000564677.5:n.219G>C
ENST00000565873.1:n.338G>C
ENST00000566304.5:c.1460G>C	ENSP00000455114.1:p.Arg487Thr
ENST00000567027.5:c.1042G>C
ENST00000567159.5:c.1427G>C	ENSP00000456489.1:p.Arg476Thr
ENST00000567411.5:c.*948G>C	ENSP00000455545.1:n.*948G>C
ENST00000568777.5:n.6647G>C
ENST00000569116.1:n.134G>C
NM_000520.4:c.1427G>C	NP_000511.2:p.Arg476Thr
NM_000520.5:c.1427G>C	NP_000511.2:p.Arg476Thr
NM_001318825.1:c.1460G>C	NP_001305754.1:p.Arg487Thr
NR_134869.1:n.1671G>C
NM_000520.6:c.1427G>C MANE Select	NP_000511.2:p.Arg476Thr
NM_001318825.2:c.1460G>C	NP_001305754.1:p.Arg487Thr
NR_134869.2:n.1212G>C
NR_134869.3:n.1212G>C