Canonical Allele Identifier: CA491109629
Community Standard Title: NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72344080G>A , CM000677.2:g.72344080G>A GRCh38
NC_000015.9:g.72636421G>A , CM000677.1:g.72636421G>A GRCh37
NC_000015.8:g.70423475G>A NCBI36
NG_009017.1:g.37100C>T
NG_009017.2:g.37100C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1587C>T MANE Select NP_000511.2:p.Thr529=
ENST00000268097.10:c.1587C>T MANE Select ENSP00000268097.6:p.Thr529=
NM_000520.4:c.1587C>T NP_000511.2:p.Thr529=
NM_000520.5:c.1587C>T NP_000511.2:p.Thr529=
NM_001318825.1:c.1620C>T NP_001305754.1:p.Thr540=
NM_001318825.2:c.1620C>T NP_001305754.1:p.Thr540=
ENST00000268097.9:c.1587C>T ENSP00000268097.5:p.Thr529=
ENST00000379915.4:c.608+1366C>T ENSP00000478716.1:n.608+1366C>T
ENST00000564677.5:n.379C>T
ENST00000565873.1:n.498C>T
ENST00000566304.5:c.1620C>T ENSP00000455114.1:p.Thr540=
ENST00000567411.5:c.*1108C>T ENSP00000455545.1:n.*1108C>T
ENST00000682064.1:n.1814C>T
ENST00000682235.1:n.1610C>T
ENST00000682461.1:c.1693C>T ENSP00000507308.1:n.1693C>T
ENST00000682653.1:n.3896C>T
ENST00000682721.1:c.*1390C>T ENSP00000507535.1:n.*1390C>T
ENST00000682843.1:c.*1228C>T ENSP00000508173.1:n.*1228C>T
ENST00000683133.1:c.1771C>T ENSP00000508108.1:n.1771C>T
ENST00000683243.1:c.*740C>T ENSP00000507042.1:n.*740C>T
ENST00000683463.1:c.*1076C>T ENSP00000507986.1:n.*1076C>T
ENST00000683548.1:n.2045C>T
ENST00000683579.1:c.*1485C>T ENSP00000506867.1:n.*1485C>T
ENST00000683587.1:n.2118C>T
ENST00000683681.1:c.*265C>T ENSP00000508110.1:n.*265C>T
ENST00000683735.1:c.*1985C>T ENSP00000508336.1:n.*1985C>T
ENST00000683853.1:c.*1697C>T ENSP00000506834.1:n.*1697C>T
ENST00000683860.1:c.*707C>T ENSP00000507179.1:n.*707C>T
ENST00000684125.1:c.*247C>T ENSP00000507320.1:n.*247C>T
ENST00000684203.1:n.4036C>T
ENST00000684231.1:c.*997C>T ENSP00000507748.1:n.*997C>T
ENST00000684263.1:c.*1211C>T ENSP00000508369.1:n.*1211C>T
ENST00000684305.1:c.2035C>T ENSP00000506819.1:n.2035C>T
ENST00000684602.1:c.*1253C>T ENSP00000507996.1:n.*1253C>T
ENST00000684667.1:c.1918C>T ENSP00000507003.1:n.1918C>T