Canonical Allele Identifier: CA393058624

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637820T>G (hg19) ; chr15:g.72345479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345479T>G , CM000677.2:g.72345479T>G	GRCh38
NC_000015.9:g.72637820T>G , CM000677.1:g.72637820T>G	GRCh37
NC_000015.8:g.70424874T>G	NCBI36
NG_009017.1:g.35701A>C
NG_009017.2:g.35701A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*153A>C	ENSP00000457521.2:n.*153A>C
ENST00000682061.1:c.*1839A>C	ENSP00000508316.1:n.*1839A>C
ENST00000682064.1:n.1720A>C
ENST00000682177.1:c.1536A>C	ENSP00000507409.1:n.1536A>C
ENST00000682235.1:n.1516A>C
ENST00000682461.1:c.1599A>C	ENSP00000507308.1:n.1599A>C
ENST00000682653.1:n.2497A>C
ENST00000682657.1:c.*1330A>C	ENSP00000507753.1:n.*1330A>C
ENST00000682721.1:c.*1296A>C	ENSP00000507535.1:n.*1296A>C
ENST00000682843.1:c.*1134A>C	ENSP00000508173.1:n.*1134A>C
ENST00000683003.1:c.*1330A>C	ENSP00000507576.1:n.*1330A>C
ENST00000683133.1:c.1677A>C	ENSP00000508108.1:n.1677A>C
ENST00000683243.1:c.*646A>C	ENSP00000507042.1:n.*646A>C
ENST00000683463.1:c.*982A>C	ENSP00000507986.1:n.*982A>C
ENST00000683548.1:n.1951A>C
ENST00000683579.1:c.*1391A>C	ENSP00000506867.1:n.*1391A>C
ENST00000683587.1:n.2024A>C
ENST00000683681.1:c.*171A>C	ENSP00000508110.1:n.*171A>C
ENST00000683735.1:c.*1891A>C	ENSP00000508336.1:n.*1891A>C
ENST00000683853.1:c.*298A>C	ENSP00000506834.1:n.*298A>C
ENST00000683860.1:c.*613A>C	ENSP00000507179.1:n.*613A>C
ENST00000683884.1:c.*820A>C	ENSP00000507004.1:n.*820A>C
ENST00000684041.1:c.*626A>C	ENSP00000508382.1:n.*626A>C
ENST00000684125.1:c.*153A>C	ENSP00000507320.1:n.*153A>C
ENST00000684203.1:n.3942A>C
ENST00000684231.1:c.*903A>C	ENSP00000507748.1:n.*903A>C
ENST00000684263.1:c.*1117A>C	ENSP00000508369.1:n.*1117A>C
ENST00000684305.1:c.1941A>C	ENSP00000506819.1:n.1941A>C
ENST00000684415.1:c.*1044A>C	ENSP00000507227.1:n.*1044A>C
ENST00000684520.1:c.*752A>C	ENSP00000506826.1:n.*752A>C
ENST00000684602.1:c.*1159A>C	ENSP00000507996.1:n.*1159A>C
ENST00000684667.1:c.1824A>C	ENSP00000507003.1:n.1824A>C
ENST00000268097.10:c.1493A>C MANE Select	ENSP00000268097.6:p.Glu498Ala
ENST00000268097.9:c.1493A>C	ENSP00000268097.5:p.Glu498Ala
ENST00000379915.4:c.575A>C	ENSP00000478716.1:p.Glu192Ala
ENST00000564677.5:n.285A>C
ENST00000565873.1:n.404A>C
ENST00000566304.5:c.1526A>C	ENSP00000455114.1:p.Glu509Ala
ENST00000567027.5:c.1108A>C
ENST00000567159.5:c.1493A>C	ENSP00000456489.1:p.Glu498Ala
ENST00000567411.5:c.*1014A>C	ENSP00000455545.1:n.*1014A>C
ENST00000568777.5:n.6713A>C
ENST00000569116.1:n.200A>C
NM_000520.4:c.1493A>C	NP_000511.2:p.Glu498Ala
NM_000520.5:c.1493A>C	NP_000511.2:p.Glu498Ala
NM_001318825.1:c.1526A>C	NP_001305754.1:p.Glu509Ala
NR_134869.1:n.1737A>C
NM_000520.6:c.1493A>C MANE Select	NP_000511.2:p.Glu498Ala
NM_001318825.2:c.1526A>C	NP_001305754.1:p.Glu509Ala
NR_134869.2:n.1278A>C
NR_134869.3:n.1278A>C