Canonical Allele Identifier: CA393058895

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637884C>G (hg19) ; chr15:g.72345543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345543C>G , CM000677.2:g.72345543C>G	GRCh38
NC_000015.9:g.72637884C>G , CM000677.1:g.72637884C>G	GRCh37
NC_000015.8:g.70424938C>G	NCBI36
NG_009017.1:g.35637G>C
NG_009017.2:g.35637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*89G>C	ENSP00000457521.2:n.*89G>C
ENST00000682061.1:c.*1775G>C	ENSP00000508316.1:n.*1775G>C
ENST00000682064.1:n.1656G>C
ENST00000682177.1:c.1472G>C	ENSP00000507409.1:n.1472G>C
ENST00000682235.1:n.1452G>C
ENST00000682461.1:c.1535G>C	ENSP00000507308.1:n.1535G>C
ENST00000682653.1:n.2433G>C
ENST00000682657.1:c.*1266G>C	ENSP00000507753.1:n.*1266G>C
ENST00000682721.1:c.*1232G>C	ENSP00000507535.1:n.*1232G>C
ENST00000682843.1:c.*1070G>C	ENSP00000508173.1:n.*1070G>C
ENST00000683003.1:c.*1266G>C	ENSP00000507576.1:n.*1266G>C
ENST00000683133.1:c.1613G>C	ENSP00000508108.1:n.1613G>C
ENST00000683243.1:c.*582G>C	ENSP00000507042.1:n.*582G>C
ENST00000683463.1:c.*918G>C	ENSP00000507986.1:n.*918G>C
ENST00000683548.1:n.1887G>C
ENST00000683579.1:c.*1327G>C	ENSP00000506867.1:n.*1327G>C
ENST00000683587.1:n.1960G>C
ENST00000683681.1:c.*107G>C	ENSP00000508110.1:n.*107G>C
ENST00000683735.1:c.*1827G>C	ENSP00000508336.1:n.*1827G>C
ENST00000683853.1:c.*234G>C	ENSP00000506834.1:n.*234G>C
ENST00000683860.1:c.*549G>C	ENSP00000507179.1:n.*549G>C
ENST00000683884.1:c.*756G>C	ENSP00000507004.1:n.*756G>C
ENST00000684041.1:c.*562G>C	ENSP00000508382.1:n.*562G>C
ENST00000684125.1:c.*89G>C	ENSP00000507320.1:n.*89G>C
ENST00000684203.1:n.3878G>C
ENST00000684231.1:c.*839G>C	ENSP00000507748.1:n.*839G>C
ENST00000684263.1:c.*1053G>C	ENSP00000508369.1:n.*1053G>C
ENST00000684305.1:c.1877G>C	ENSP00000506819.1:n.1877G>C
ENST00000684415.1:c.*980G>C	ENSP00000507227.1:n.*980G>C
ENST00000684520.1:c.*688G>C	ENSP00000506826.1:n.*688G>C
ENST00000684602.1:c.*1095G>C	ENSP00000507996.1:n.*1095G>C
ENST00000684667.1:c.1760G>C	ENSP00000507003.1:n.1760G>C
ENST00000268097.10:c.1429G>C MANE Select	ENSP00000268097.6:p.Ala477Pro
ENST00000268097.9:c.1429G>C	ENSP00000268097.5:p.Ala477Pro
ENST00000379915.4:c.511G>C	ENSP00000478716.1:p.Ala171Pro
ENST00000564677.5:n.221G>C
ENST00000565873.1:n.340G>C
ENST00000566304.5:c.1462G>C	ENSP00000455114.1:p.Ala488Pro
ENST00000567027.5:c.1044G>C
ENST00000567159.5:c.1429G>C	ENSP00000456489.1:p.Ala477Pro
ENST00000567411.5:c.*950G>C	ENSP00000455545.1:n.*950G>C
ENST00000568777.5:n.6649G>C
ENST00000569116.1:n.136G>C
NM_000520.4:c.1429G>C	NP_000511.2:p.Ala477Pro
NM_000520.5:c.1429G>C	NP_000511.2:p.Ala477Pro
NM_001318825.1:c.1462G>C	NP_001305754.1:p.Ala488Pro
NR_134869.1:n.1673G>C
NM_000520.6:c.1429G>C MANE Select	NP_000511.2:p.Ala477Pro
NM_001318825.2:c.1462G>C	NP_001305754.1:p.Ala488Pro
NR_134869.2:n.1214G>C
NR_134869.3:n.1214G>C