Canonical Allele Identifier: CA393058545

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637808T>G (hg19) ; chr15:g.72345467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345467T>G , CM000677.2:g.72345467T>G	GRCh38
NC_000015.9:g.72637808T>G , CM000677.1:g.72637808T>G	GRCh37
NC_000015.8:g.70424862T>G	NCBI36
NG_009017.1:g.35713A>C
NG_009017.2:g.35713A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*165A>C	ENSP00000457521.2:n.*165A>C
ENST00000682061.1:c.*1851A>C	ENSP00000508316.1:n.*1851A>C
ENST00000682064.1:n.1732A>C
ENST00000682177.1:c.1548A>C	ENSP00000507409.1:n.1548A>C
ENST00000682235.1:n.1528A>C
ENST00000682461.1:c.1611A>C	ENSP00000507308.1:n.1611A>C
ENST00000682653.1:n.2509A>C
ENST00000682657.1:c.*1342A>C	ENSP00000507753.1:n.*1342A>C
ENST00000682721.1:c.*1308A>C	ENSP00000507535.1:n.*1308A>C
ENST00000682843.1:c.*1146A>C	ENSP00000508173.1:n.*1146A>C
ENST00000683003.1:c.*1342A>C	ENSP00000507576.1:n.*1342A>C
ENST00000683133.1:c.1689A>C	ENSP00000508108.1:n.1689A>C
ENST00000683243.1:c.*658A>C	ENSP00000507042.1:n.*658A>C
ENST00000683463.1:c.*994A>C	ENSP00000507986.1:n.*994A>C
ENST00000683548.1:n.1963A>C
ENST00000683579.1:c.*1403A>C	ENSP00000506867.1:n.*1403A>C
ENST00000683587.1:n.2036A>C
ENST00000683681.1:c.*183A>C	ENSP00000508110.1:n.*183A>C
ENST00000683735.1:c.*1903A>C	ENSP00000508336.1:n.*1903A>C
ENST00000683853.1:c.*310A>C	ENSP00000506834.1:n.*310A>C
ENST00000683860.1:c.*625A>C	ENSP00000507179.1:n.*625A>C
ENST00000683884.1:c.*832A>C	ENSP00000507004.1:n.*832A>C
ENST00000684125.1:c.*165A>C	ENSP00000507320.1:n.*165A>C
ENST00000684203.1:n.3954A>C
ENST00000684231.1:c.*915A>C	ENSP00000507748.1:n.*915A>C
ENST00000684263.1:c.*1129A>C	ENSP00000508369.1:n.*1129A>C
ENST00000684305.1:c.1953A>C	ENSP00000506819.1:n.1953A>C
ENST00000684415.1:c.*1056A>C	ENSP00000507227.1:n.*1056A>C
ENST00000684520.1:c.*764A>C	ENSP00000506826.1:n.*764A>C
ENST00000684602.1:c.*1171A>C	ENSP00000507996.1:n.*1171A>C
ENST00000684667.1:c.1836A>C	ENSP00000507003.1:n.1836A>C
ENST00000268097.10:c.1505A>C MANE Select	ENSP00000268097.6:p.His502Pro
ENST00000268097.9:c.1505A>C	ENSP00000268097.5:p.His502Pro
ENST00000379915.4:c.587A>C	ENSP00000478716.1:p.His196Pro
ENST00000564677.5:n.297A>C
ENST00000565873.1:n.416A>C
ENST00000566304.5:c.1538A>C	ENSP00000455114.1:p.His513Pro
ENST00000567027.5:c.1120A>C
ENST00000567159.5:c.1505A>C	ENSP00000456489.1:p.His502Pro
ENST00000567411.5:c.*1026A>C	ENSP00000455545.1:n.*1026A>C
ENST00000568777.5:n.6725A>C
ENST00000569116.1:n.212A>C
NM_000520.4:c.1505A>C	NP_000511.2:p.His502Pro
NM_000520.5:c.1505A>C	NP_000511.2:p.His502Pro
NM_001318825.1:c.1538A>C	NP_001305754.1:p.His513Pro
NR_134869.1:n.1749A>C
NM_000520.6:c.1505A>C MANE Select	NP_000511.2:p.His502Pro
NM_001318825.2:c.1538A>C	NP_001305754.1:p.His513Pro
NR_134869.2:n.1290A>C
NR_134869.3:n.1290A>C