Canonical Allele Identifier: CA393057526
Community Standard Title: NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72344130G>A , CM000677.2:g.72344130G>A GRCh38
NC_000015.9:g.72636471G>A , CM000677.1:g.72636471G>A GRCh37
NC_000015.8:g.70423525G>A NCBI36
NG_009017.1:g.37050C>T
NG_009017.2:g.37050C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1537C>T MANE Select NP_000511.2:p.Gln513Ter
ENST00000268097.10:c.1537C>T MANE Select ENSP00000268097.6:p.Gln513Ter
NM_000520.4:c.1537C>T NP_000511.2:p.Gln513Ter
NM_000520.5:c.1537C>T NP_000511.2:p.Gln513Ter
NM_001318825.1:c.1570C>T NP_001305754.1:p.Gln524Ter
NM_001318825.2:c.1570C>T NP_001305754.1:p.Gln524Ter
ENST00000268097.9:c.1537C>T ENSP00000268097.5:p.Gln513Ter
ENST00000379915.4:c.608+1316C>T ENSP00000478716.1:n.608+1316C>T
ENST00000564677.5:n.329C>T
ENST00000565873.1:n.448C>T
ENST00000566304.5:c.1570C>T ENSP00000455114.1:p.Gln524Ter
ENST00000567411.5:c.*1058C>T ENSP00000455545.1:n.*1058C>T
ENST00000682064.1:n.1764C>T
ENST00000682235.1:n.1560C>T
ENST00000682461.1:c.1643C>T ENSP00000507308.1:n.1643C>T
ENST00000682653.1:n.3846C>T
ENST00000682721.1:c.*1340C>T ENSP00000507535.1:n.*1340C>T
ENST00000682843.1:c.*1178C>T ENSP00000508173.1:n.*1178C>T
ENST00000683133.1:c.1721C>T ENSP00000508108.1:n.1721C>T
ENST00000683243.1:c.*690C>T ENSP00000507042.1:n.*690C>T
ENST00000683463.1:c.*1026C>T ENSP00000507986.1:n.*1026C>T
ENST00000683548.1:n.1995C>T
ENST00000683579.1:c.*1435C>T ENSP00000506867.1:n.*1435C>T
ENST00000683587.1:n.2068C>T
ENST00000683681.1:c.*215C>T ENSP00000508110.1:n.*215C>T
ENST00000683735.1:c.*1935C>T ENSP00000508336.1:n.*1935C>T
ENST00000683853.1:c.*1647C>T ENSP00000506834.1:n.*1647C>T
ENST00000683860.1:c.*657C>T ENSP00000507179.1:n.*657C>T
ENST00000684125.1:c.*197C>T ENSP00000507320.1:n.*197C>T
ENST00000684203.1:n.3986C>T
ENST00000684231.1:c.*947C>T ENSP00000507748.1:n.*947C>T
ENST00000684263.1:c.*1161C>T ENSP00000508369.1:n.*1161C>T
ENST00000684305.1:c.1985C>T ENSP00000506819.1:n.1985C>T
ENST00000684602.1:c.*1203C>T ENSP00000507996.1:n.*1203C>T
ENST00000684667.1:c.1868C>T ENSP00000507003.1:n.1868C>T