Canonical Allele Identifier: CA393058786

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345515-C-A
• MyVariant Identifiers: chr15:g.72637856C>A (hg19) ; chr15:g.72345515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345515C>A , CM000677.2:g.72345515C>A	GRCh38
NC_000015.9:g.72637856C>A , CM000677.1:g.72637856C>A	GRCh37
NC_000015.8:g.70424910C>A	NCBI36
NG_009017.1:g.35665G>T
NG_009017.2:g.35665G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*117G>T	ENSP00000457521.2:n.*117G>T
ENST00000682061.1:c.*1803G>T	ENSP00000508316.1:n.*1803G>T
ENST00000682064.1:n.1684G>T
ENST00000682177.1:c.1500G>T	ENSP00000507409.1:n.1500G>T
ENST00000682235.1:n.1480G>T
ENST00000682461.1:c.1563G>T	ENSP00000507308.1:n.1563G>T
ENST00000682653.1:n.2461G>T
ENST00000682657.1:c.*1294G>T	ENSP00000507753.1:n.*1294G>T
ENST00000682721.1:c.*1260G>T	ENSP00000507535.1:n.*1260G>T
ENST00000682843.1:c.*1098G>T	ENSP00000508173.1:n.*1098G>T
ENST00000683003.1:c.*1294G>T	ENSP00000507576.1:n.*1294G>T
ENST00000683133.1:c.1641G>T	ENSP00000508108.1:n.1641G>T
ENST00000683243.1:c.*610G>T	ENSP00000507042.1:n.*610G>T
ENST00000683463.1:c.*946G>T	ENSP00000507986.1:n.*946G>T
ENST00000683548.1:n.1915G>T
ENST00000683579.1:c.*1355G>T	ENSP00000506867.1:n.*1355G>T
ENST00000683587.1:n.1988G>T
ENST00000683681.1:c.*135G>T	ENSP00000508110.1:n.*135G>T
ENST00000683735.1:c.*1855G>T	ENSP00000508336.1:n.*1855G>T
ENST00000683853.1:c.*262G>T	ENSP00000506834.1:n.*262G>T
ENST00000683860.1:c.*577G>T	ENSP00000507179.1:n.*577G>T
ENST00000683884.1:c.*784G>T	ENSP00000507004.1:n.*784G>T
ENST00000684041.1:c.*590G>T	ENSP00000508382.1:n.*590G>T
ENST00000684125.1:c.*117G>T	ENSP00000507320.1:n.*117G>T
ENST00000684203.1:n.3906G>T
ENST00000684231.1:c.*867G>T	ENSP00000507748.1:n.*867G>T
ENST00000684263.1:c.*1081G>T	ENSP00000508369.1:n.*1081G>T
ENST00000684305.1:c.1905G>T	ENSP00000506819.1:n.1905G>T
ENST00000684415.1:c.*1008G>T	ENSP00000507227.1:n.*1008G>T
ENST00000684520.1:c.*716G>T	ENSP00000506826.1:n.*716G>T
ENST00000684602.1:c.*1123G>T	ENSP00000507996.1:n.*1123G>T
ENST00000684667.1:c.1788G>T	ENSP00000507003.1:n.1788G>T
ENST00000268097.10:c.1457G>T MANE Select	ENSP00000268097.6:p.Ser486Ile
ENST00000268097.9:c.1457G>T	ENSP00000268097.5:p.Ser486Ile
ENST00000379915.4:c.539G>T	ENSP00000478716.1:p.Ser180Ile
ENST00000564677.5:n.249G>T
ENST00000565873.1:n.368G>T
ENST00000566304.5:c.1490G>T	ENSP00000455114.1:p.Ser497Ile
ENST00000567027.5:c.1072G>T
ENST00000567159.5:c.1457G>T	ENSP00000456489.1:p.Ser486Ile
ENST00000567411.5:c.*978G>T	ENSP00000455545.1:n.*978G>T
ENST00000568777.5:n.6677G>T
ENST00000569116.1:n.164G>T
NM_000520.4:c.1457G>T	NP_000511.2:p.Ser486Ile
NM_000520.5:c.1457G>T	NP_000511.2:p.Ser486Ile
NM_001318825.1:c.1490G>T	NP_001305754.1:p.Ser497Ile
NR_134869.1:n.1701G>T
NM_000520.6:c.1457G>T MANE Select	NP_000511.2:p.Ser486Ile
NM_001318825.2:c.1490G>T	NP_001305754.1:p.Ser497Ile
NR_134869.2:n.1242G>T
NR_134869.3:n.1242G>T