Canonical Allele Identifier: CA491110712
Gene: HEXA HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72637734C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345393C>G , CM000677.2:g.72345393C>G GRCh38
NC_000015.9:g.72637734C>G , CM000677.1:g.72637734C>G GRCh37
NC_000015.8:g.70424788C>G NCBI36
NG_009017.1:g.35787G>C
NG_009017.2:g.35787G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*239G>C ENSP00000457521.2:n.*239G>C
ENST00000682061.1:c.*1925G>C ENSP00000508316.1:n.*1925G>C
ENST00000682064.1:n.1753+53G>C
ENST00000682177.1:c.1622G>C ENSP00000507409.1:n.1622G>C
ENST00000682235.1:n.1549+53G>C
ENST00000682461.1:c.1632+53G>C ENSP00000507308.1:n.1632+53G>C
ENST00000682653.1:n.2583G>C
ENST00000682657.1:c.*1416G>C ENSP00000507753.1:n.*1416G>C
ENST00000682721.1:c.*1329+53G>C ENSP00000507535.1:n.*1329+53G>C
ENST00000682843.1:c.*1167+53G>C ENSP00000508173.1:n.*1167+53G>C
ENST00000683003.1:c.*1416G>C ENSP00000507576.1:n.*1416G>C
ENST00000683133.1:c.1710+53G>C ENSP00000508108.1:n.1710+53G>C
ENST00000683243.1:c.*679+53G>C ENSP00000507042.1:n.*679+53G>C
ENST00000683463.1:c.*1015+53G>C ENSP00000507986.1:n.*1015+53G>C
ENST00000683548.1:n.1984+53G>C
ENST00000683579.1:c.*1424+53G>C ENSP00000506867.1:n.*1424+53G>C
ENST00000683587.1:n.2057+53G>C
ENST00000683681.1:c.*204+53G>C ENSP00000508110.1:n.*204+53G>C
ENST00000683735.1:c.*1924+53G>C ENSP00000508336.1:n.*1924+53G>C
ENST00000683853.1:c.*384G>C ENSP00000506834.1:n.*384G>C
ENST00000683860.1:c.*646+53G>C ENSP00000507179.1:n.*646+53G>C
ENST00000683884.1:c.*906G>C ENSP00000507004.1:n.*906G>C
ENST00000684125.1:c.*186+53G>C ENSP00000507320.1:n.*186+53G>C
ENST00000684203.1:n.3975+53G>C
ENST00000684231.1:c.*936+53G>C ENSP00000507748.1:n.*936+53G>C
ENST00000684263.1:c.*1150+53G>C ENSP00000508369.1:n.*1150+53G>C
ENST00000684305.1:c.1974+53G>C ENSP00000506819.1:n.1974+53G>C
ENST00000684415.1:c.*1130G>C ENSP00000507227.1:n.*1130G>C
ENST00000684520.1:c.*838G>C ENSP00000506826.1:n.*838G>C
ENST00000684602.1:c.*1192+53G>C ENSP00000507996.1:n.*1192+53G>C
ENST00000684667.1:c.1857+53G>C ENSP00000507003.1:n.1857+53G>C
ENST00000268097.10:c.1526+53G>C MANE Select ENSP00000268097.6:n.1526+53G>C
ENST00000268097.9:c.1526+53G>C ENSP00000268097.5:n.1526+53G>C
ENST00000379915.4:c.608+53G>C ENSP00000478716.1:n.608+53G>C
ENST00000564677.5:n.318+53G>C
ENST00000565873.1:n.437+53G>C
ENST00000566304.5:c.1559+53G>C ENSP00000455114.1:n.1559+53G>C
ENST00000567027.5:c.1194G>C
ENST00000567411.5:c.*1047+53G>C ENSP00000455545.1:n.*1047+53G>C
ENST00000568777.5:n.6799G>C
ENST00000569116.1:n.286G>C
NM_000520.4:c.1526+53G>C NP_000511.2:n.1526+53G>C
NM_000520.5:c.1526+53G>C NP_000511.2:n.1526+53G>C
NM_001318825.1:c.1559+53G>C NP_001305754.1:n.1559+53G>C
NR_134869.1:n.1823G>C
NM_000520.6:c.1526+53G>C MANE Select NP_000511.2:n.1526+53G>C
NM_001318825.2:c.1559+53G>C NP_001305754.1:n.1559+53G>C
NR_134869.2:n.1364G>C
NR_134869.3:n.1364G>C