Canonical Allele Identifier: CA393058834

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637867T>G (hg19) ; chr15:g.72345526T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345526T>G , CM000677.2:g.72345526T>G	GRCh38
NC_000015.9:g.72637867T>G , CM000677.1:g.72637867T>G	GRCh37
NC_000015.8:g.70424921T>G	NCBI36
NG_009017.1:g.35654A>C
NG_009017.2:g.35654A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*106A>C	ENSP00000457521.2:n.*106A>C
ENST00000682061.1:c.*1792A>C	ENSP00000508316.1:n.*1792A>C
ENST00000682064.1:n.1673A>C
ENST00000682177.1:c.1489A>C	ENSP00000507409.1:n.1489A>C
ENST00000682235.1:n.1469A>C
ENST00000682461.1:c.1552A>C	ENSP00000507308.1:n.1552A>C
ENST00000682653.1:n.2450A>C
ENST00000682657.1:c.*1283A>C	ENSP00000507753.1:n.*1283A>C
ENST00000682721.1:c.*1249A>C	ENSP00000507535.1:n.*1249A>C
ENST00000682843.1:c.*1087A>C	ENSP00000508173.1:n.*1087A>C
ENST00000683003.1:c.*1283A>C	ENSP00000507576.1:n.*1283A>C
ENST00000683133.1:c.1630A>C	ENSP00000508108.1:n.1630A>C
ENST00000683243.1:c.*599A>C	ENSP00000507042.1:n.*599A>C
ENST00000683463.1:c.*935A>C	ENSP00000507986.1:n.*935A>C
ENST00000683548.1:n.1904A>C
ENST00000683579.1:c.*1344A>C	ENSP00000506867.1:n.*1344A>C
ENST00000683587.1:n.1977A>C
ENST00000683681.1:c.*124A>C	ENSP00000508110.1:n.*124A>C
ENST00000683735.1:c.*1844A>C	ENSP00000508336.1:n.*1844A>C
ENST00000683853.1:c.*251A>C	ENSP00000506834.1:n.*251A>C
ENST00000683860.1:c.*566A>C	ENSP00000507179.1:n.*566A>C
ENST00000683884.1:c.*773A>C	ENSP00000507004.1:n.*773A>C
ENST00000684041.1:c.*579A>C	ENSP00000508382.1:n.*579A>C
ENST00000684125.1:c.*106A>C	ENSP00000507320.1:n.*106A>C
ENST00000684203.1:n.3895A>C
ENST00000684231.1:c.*856A>C	ENSP00000507748.1:n.*856A>C
ENST00000684263.1:c.*1070A>C	ENSP00000508369.1:n.*1070A>C
ENST00000684305.1:c.1894A>C	ENSP00000506819.1:n.1894A>C
ENST00000684415.1:c.*997A>C	ENSP00000507227.1:n.*997A>C
ENST00000684520.1:c.*705A>C	ENSP00000506826.1:n.*705A>C
ENST00000684602.1:c.*1112A>C	ENSP00000507996.1:n.*1112A>C
ENST00000684667.1:c.1777A>C	ENSP00000507003.1:n.1777A>C
ENST00000268097.10:c.1446A>C MANE Select	ENSP00000268097.6:p.Glu482Asp
ENST00000268097.9:c.1446A>C	ENSP00000268097.5:p.Glu482Asp
ENST00000379915.4:c.528A>C	ENSP00000478716.1:p.Glu176Asp
ENST00000564677.5:n.238A>C
ENST00000565873.1:n.357A>C
ENST00000566304.5:c.1479A>C	ENSP00000455114.1:p.Glu493Asp
ENST00000567027.5:c.1061A>C
ENST00000567159.5:c.1446A>C	ENSP00000456489.1:p.Glu482Asp
ENST00000567411.5:c.*967A>C	ENSP00000455545.1:n.*967A>C
ENST00000568777.5:n.6666A>C
ENST00000569116.1:n.153A>C
NM_000520.4:c.1446A>C	NP_000511.2:p.Glu482Asp
NM_000520.5:c.1446A>C	NP_000511.2:p.Glu482Asp
NM_001318825.1:c.1479A>C	NP_001305754.1:p.Glu493Asp
NR_134869.1:n.1690A>C
NM_000520.6:c.1446A>C MANE Select	NP_000511.2:p.Glu482Asp
NM_001318825.2:c.1479A>C	NP_001305754.1:p.Glu493Asp
NR_134869.2:n.1231A>C
NR_134869.3:n.1231A>C