Canonical Allele Identifier: CA393058500

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637800A>G (hg19) ; chr15:g.72345459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345459A>G , CM000677.2:g.72345459A>G	GRCh38
NC_000015.9:g.72637800A>G , CM000677.1:g.72637800A>G	GRCh37
NC_000015.8:g.70424854A>G	NCBI36
NG_009017.1:g.35721T>C
NG_009017.2:g.35721T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*173T>C	ENSP00000457521.2:n.*173T>C
ENST00000682061.1:c.*1859T>C	ENSP00000508316.1:n.*1859T>C
ENST00000682064.1:n.1740T>C
ENST00000682177.1:c.1556T>C	ENSP00000507409.1:n.1556T>C
ENST00000682235.1:n.1536T>C
ENST00000682461.1:c.1619T>C	ENSP00000507308.1:n.1619T>C
ENST00000682653.1:n.2517T>C
ENST00000682657.1:c.*1350T>C	ENSP00000507753.1:n.*1350T>C
ENST00000682721.1:c.*1316T>C	ENSP00000507535.1:n.*1316T>C
ENST00000682843.1:c.*1154T>C	ENSP00000508173.1:n.*1154T>C
ENST00000683003.1:c.*1350T>C	ENSP00000507576.1:n.*1350T>C
ENST00000683133.1:c.1697T>C	ENSP00000508108.1:n.1697T>C
ENST00000683243.1:c.*666T>C	ENSP00000507042.1:n.*666T>C
ENST00000683463.1:c.*1002T>C	ENSP00000507986.1:n.*1002T>C
ENST00000683548.1:n.1971T>C
ENST00000683579.1:c.*1411T>C	ENSP00000506867.1:n.*1411T>C
ENST00000683587.1:n.2044T>C
ENST00000683681.1:c.*191T>C	ENSP00000508110.1:n.*191T>C
ENST00000683735.1:c.*1911T>C	ENSP00000508336.1:n.*1911T>C
ENST00000683853.1:c.*318T>C	ENSP00000506834.1:n.*318T>C
ENST00000683860.1:c.*633T>C	ENSP00000507179.1:n.*633T>C
ENST00000683884.1:c.*840T>C	ENSP00000507004.1:n.*840T>C
ENST00000684125.1:c.*173T>C	ENSP00000507320.1:n.*173T>C
ENST00000684203.1:n.3962T>C
ENST00000684231.1:c.*923T>C	ENSP00000507748.1:n.*923T>C
ENST00000684263.1:c.*1137T>C	ENSP00000508369.1:n.*1137T>C
ENST00000684305.1:c.1961T>C	ENSP00000506819.1:n.1961T>C
ENST00000684415.1:c.*1064T>C	ENSP00000507227.1:n.*1064T>C
ENST00000684520.1:c.*772T>C	ENSP00000506826.1:n.*772T>C
ENST00000684602.1:c.*1179T>C	ENSP00000507996.1:n.*1179T>C
ENST00000684667.1:c.1844T>C	ENSP00000507003.1:n.1844T>C
ENST00000268097.10:c.1513T>C MANE Select	ENSP00000268097.6:p.Cys505Arg
ENST00000268097.9:c.1513T>C	ENSP00000268097.5:p.Cys505Arg
ENST00000379915.4:c.595T>C	ENSP00000478716.1:p.Cys199Arg
ENST00000564677.5:n.305T>C
ENST00000565873.1:n.424T>C
ENST00000566304.5:c.1546T>C	ENSP00000455114.1:p.Cys516Arg
ENST00000567027.5:c.1128T>C
ENST00000567159.5:c.1513T>C	ENSP00000456489.1:p.Cys505Arg
ENST00000567411.5:c.*1034T>C	ENSP00000455545.1:n.*1034T>C
ENST00000568777.5:n.6733T>C
ENST00000569116.1:n.220T>C
NM_000520.4:c.1513T>C	NP_000511.2:p.Cys505Arg
NM_000520.5:c.1513T>C	NP_000511.2:p.Cys505Arg
NM_001318825.1:c.1546T>C	NP_001305754.1:p.Cys516Arg
NR_134869.1:n.1757T>C
NM_000520.6:c.1513T>C MANE Select	NP_000511.2:p.Cys505Arg
NM_001318825.2:c.1546T>C	NP_001305754.1:p.Cys516Arg
NR_134869.2:n.1298T>C
NR_134869.3:n.1298T>C