Canonical Allele Identifier: CA7644675

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1420802
• ClinVar RCV Id: RCV001916617
• dbSNP Id: rs370638338
• ExAC: 15:72637875 C / T
• gnomAD v2: 15-72637875-C-T
• gnomAD v3: 15-72345534-C-T
• gnomAD v4: 15-72345534-C-T
• MyVariant Identifiers: chr15:g.72637875C>T (hg19) ; chr15:g.72345534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345534C>T , CM000677.2:g.72345534C>T	GRCh38
NC_000015.9:g.72637875C>T , CM000677.1:g.72637875C>T	GRCh37
NC_000015.8:g.70424929C>T	NCBI36
NG_009017.1:g.35646G>A
NG_009017.2:g.35646G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*98G>A	ENSP00000457521.2:n.*98G>A
ENST00000682061.1:c.*1784G>A	ENSP00000508316.1:n.*1784G>A
ENST00000682064.1:n.1665G>A
ENST00000682177.1:c.1481G>A	ENSP00000507409.1:n.1481G>A
ENST00000682235.1:n.1461G>A
ENST00000682461.1:c.1544G>A	ENSP00000507308.1:n.1544G>A
ENST00000682653.1:n.2442G>A
ENST00000682657.1:c.*1275G>A	ENSP00000507753.1:n.*1275G>A
ENST00000682721.1:c.*1241G>A	ENSP00000507535.1:n.*1241G>A
ENST00000682843.1:c.*1079G>A	ENSP00000508173.1:n.*1079G>A
ENST00000683003.1:c.*1275G>A	ENSP00000507576.1:n.*1275G>A
ENST00000683133.1:c.1622G>A	ENSP00000508108.1:n.1622G>A
ENST00000683243.1:c.*591G>A	ENSP00000507042.1:n.*591G>A
ENST00000683463.1:c.*927G>A	ENSP00000507986.1:n.*927G>A
ENST00000683548.1:n.1896G>A
ENST00000683579.1:c.*1336G>A	ENSP00000506867.1:n.*1336G>A
ENST00000683587.1:n.1969G>A
ENST00000683681.1:c.*116G>A	ENSP00000508110.1:n.*116G>A
ENST00000683735.1:c.*1836G>A	ENSP00000508336.1:n.*1836G>A
ENST00000683853.1:c.*243G>A	ENSP00000506834.1:n.*243G>A
ENST00000683860.1:c.*558G>A	ENSP00000507179.1:n.*558G>A
ENST00000683884.1:c.*765G>A	ENSP00000507004.1:n.*765G>A
ENST00000684041.1:c.*571G>A	ENSP00000508382.1:n.*571G>A
ENST00000684125.1:c.*98G>A	ENSP00000507320.1:n.*98G>A
ENST00000684203.1:n.3887G>A
ENST00000684231.1:c.*848G>A	ENSP00000507748.1:n.*848G>A
ENST00000684263.1:c.*1062G>A	ENSP00000508369.1:n.*1062G>A
ENST00000684305.1:c.1886G>A	ENSP00000506819.1:n.1886G>A
ENST00000684415.1:c.*989G>A	ENSP00000507227.1:n.*989G>A
ENST00000684520.1:c.*697G>A	ENSP00000506826.1:n.*697G>A
ENST00000684602.1:c.*1104G>A	ENSP00000507996.1:n.*1104G>A
ENST00000684667.1:c.1769G>A	ENSP00000507003.1:n.1769G>A
ENST00000268097.10:c.1438G>A MANE Select	ENSP00000268097.6:p.Val480Ile
ENST00000268097.9:c.1438G>A	ENSP00000268097.5:p.Val480Ile
ENST00000379915.4:c.520G>A	ENSP00000478716.1:p.Val174Ile
ENST00000564677.5:n.230G>A
ENST00000565873.1:n.349G>A
ENST00000566304.5:c.1471G>A	ENSP00000455114.1:p.Val491Ile
ENST00000567027.5:c.1053G>A
ENST00000567159.5:c.1438G>A	ENSP00000456489.1:p.Val480Ile
ENST00000567411.5:c.*959G>A	ENSP00000455545.1:n.*959G>A
ENST00000568777.5:n.6658G>A
ENST00000569116.1:n.145G>A
NM_000520.4:c.1438G>A	NP_000511.2:p.Val480Ile
NM_000520.5:c.1438G>A	NP_000511.2:p.Val480Ile
NM_001318825.1:c.1471G>A	NP_001305754.1:p.Val491Ile
NR_134869.1:n.1682G>A
NM_000520.6:c.1438G>A MANE Select	NP_000511.2:p.Val480Ile
NM_001318825.2:c.1471G>A	NP_001305754.1:p.Val491Ile
NR_134869.2:n.1223G>A
NR_134869.3:n.1223G>A