Canonical Allele Identifier: CA7644739

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2012146
• ClinVar RCV Id: RCV002838936
• dbSNP Id: rs757010519
• ExAC: 15:72638902 C / T
• gnomAD v2: 15-72638902-C-T
• MyVariant Identifiers: chr15:g.72638902C>T (hg19) ; chr15:g.72346561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346561C>T , CM000677.2:g.72346561C>T	GRCh38
NC_000015.9:g.72638902C>T , CM000677.1:g.72638902C>T	GRCh37
NC_000015.8:g.70425956C>T	NCBI36
NG_009017.1:g.34619G>A
NG_009017.2:g.34619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-236G>A	ENSP00000457521.2:n.1074-236G>A
ENST00000682061.1:c.*958G>A	ENSP00000508316.1:n.*958G>A
ENST00000682064.1:n.638G>A
ENST00000682177.1:c.1339G>A	ENSP00000507409.1:n.1339G>A
ENST00000682235.1:n.635G>A
ENST00000682461.1:c.1402G>A	ENSP00000507308.1:n.1402G>A
ENST00000682653.1:n.1616G>A
ENST00000682657.1:c.*484-236G>A	ENSP00000507753.1:n.*484-236G>A
ENST00000682721.1:c.*1099G>A	ENSP00000507535.1:n.*1099G>A
ENST00000682843.1:c.*972-236G>A	ENSP00000508173.1:n.*972-236G>A
ENST00000683003.1:c.*484-236G>A	ENSP00000507576.1:n.*484-236G>A
ENST00000683133.1:c.1480G>A	ENSP00000508108.1:n.1480G>A
ENST00000683243.1:c.*484-236G>A	ENSP00000507042.1:n.*484-236G>A
ENST00000683463.1:c.*101G>A	ENSP00000507986.1:n.*101G>A
ENST00000683548.1:n.1105-236G>A
ENST00000683579.1:c.*1194G>A	ENSP00000506867.1:n.*1194G>A
ENST00000683587.1:n.1178-236G>A
ENST00000683681.1:c.1296G>A	ENSP00000508110.1:p.Lys432=
ENST00000683735.1:c.*1045-236G>A	ENSP00000508336.1:n.*1045-236G>A
ENST00000683853.1:c.*101G>A	ENSP00000506834.1:n.*101G>A
ENST00000683860.1:c.1296G>A	ENSP00000507179.1:p.Lys432=
ENST00000683884.1:c.1147-236G>A	ENSP00000507004.1:n.1147-236G>A
ENST00000684041.1:c.1296G>A	ENSP00000508382.1:p.Lys432=
ENST00000684125.1:c.1074-236G>A	ENSP00000507320.1:n.1074-236G>A
ENST00000684203.1:n.3061G>A
ENST00000684231.1:c.*706G>A	ENSP00000507748.1:n.*706G>A
ENST00000684263.1:c.*236G>A	ENSP00000508369.1:n.*236G>A
ENST00000684305.1:c.1744G>A	ENSP00000506819.1:n.1744G>A
ENST00000684415.1:c.*163G>A	ENSP00000507227.1:n.*163G>A
ENST00000684520.1:c.1296G>A	ENSP00000506826.1:p.Lys432=
ENST00000684602.1:c.*962G>A	ENSP00000507996.1:n.*962G>A
ENST00000684667.1:c.1627G>A	ENSP00000507003.1:n.1627G>A
ENST00000268097.10:c.1296G>A MANE Select	ENSP00000268097.6:p.Lys432=
ENST00000268097.9:c.1296G>A	ENSP00000268097.5:p.Lys432=
ENST00000379915.4:c.413-236G>A	ENSP00000478716.1:n.413-236G>A
ENST00000563762.5:c.826-236G>A	ENSP00000456346.1:n.826-236G>A
ENST00000566304.5:c.1329G>A	ENSP00000455114.1:p.Lys443=
ENST00000566672.5:c.*706G>A	ENSP00000457037.1:n.*706G>A
ENST00000567027.5:c.946-236G>A
ENST00000567159.5:c.1296G>A	ENSP00000456489.1:p.Lys432=
ENST00000567411.5:c.*817G>A	ENSP00000455545.1:n.*817G>A
ENST00000568777.5:n.6551-236G>A
ENST00000569410.5:c.*101G>A	ENSP00000457125.1:n.*101G>A
NM_000520.4:c.1296G>A	NP_000511.2:p.Lys432=
NM_000520.5:c.1296G>A	NP_000511.2:p.Lys432=
NM_001318825.1:c.1329G>A	NP_001305754.1:p.Lys443=
NR_134869.1:n.1575-236G>A
NM_000520.6:c.1296G>A MANE Select	NP_000511.2:p.Lys432=
NM_001318825.2:c.1329G>A	NP_001305754.1:p.Lys443=
NR_134869.2:n.1116-236G>A
NR_134869.3:n.1116-236G>A