Canonical Allele Identifier: CA393057464
Community Standard Title: NM_000520.6(HEXA):c.1549C>G (p.Leu517Val)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72344118G>C , CM000677.2:g.72344118G>C GRCh38
NC_000015.9:g.72636459G>C , CM000677.1:g.72636459G>C GRCh37
NC_000015.8:g.70423513G>C NCBI36
NG_009017.1:g.37062C>G
NG_009017.2:g.37062C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1549C>G MANE Select NP_000511.2:p.Leu517Val
ENST00000268097.10:c.1549C>G MANE Select ENSP00000268097.6:p.Leu517Val
NM_000520.4:c.1549C>G NP_000511.2:p.Leu517Val
NM_000520.5:c.1549C>G NP_000511.2:p.Leu517Val
NM_001318825.1:c.1582C>G NP_001305754.1:p.Leu528Val
NM_001318825.2:c.1582C>G NP_001305754.1:p.Leu528Val
ENST00000268097.9:c.1549C>G ENSP00000268097.5:p.Leu517Val
ENST00000379915.4:c.608+1328C>G ENSP00000478716.1:n.608+1328C>G
ENST00000564677.5:n.341C>G
ENST00000565873.1:n.460C>G
ENST00000566304.5:c.1582C>G ENSP00000455114.1:p.Leu528Val
ENST00000567411.5:c.*1070C>G ENSP00000455545.1:n.*1070C>G
ENST00000682064.1:n.1776C>G
ENST00000682235.1:n.1572C>G
ENST00000682461.1:c.1655C>G ENSP00000507308.1:n.1655C>G
ENST00000682653.1:n.3858C>G
ENST00000682721.1:c.*1352C>G ENSP00000507535.1:n.*1352C>G
ENST00000682843.1:c.*1190C>G ENSP00000508173.1:n.*1190C>G
ENST00000683133.1:c.1733C>G ENSP00000508108.1:n.1733C>G
ENST00000683243.1:c.*702C>G ENSP00000507042.1:n.*702C>G
ENST00000683463.1:c.*1038C>G ENSP00000507986.1:n.*1038C>G
ENST00000683548.1:n.2007C>G
ENST00000683579.1:c.*1447C>G ENSP00000506867.1:n.*1447C>G
ENST00000683587.1:n.2080C>G
ENST00000683681.1:c.*227C>G ENSP00000508110.1:n.*227C>G
ENST00000683735.1:c.*1947C>G ENSP00000508336.1:n.*1947C>G
ENST00000683853.1:c.*1659C>G ENSP00000506834.1:n.*1659C>G
ENST00000683860.1:c.*669C>G ENSP00000507179.1:n.*669C>G
ENST00000684125.1:c.*209C>G ENSP00000507320.1:n.*209C>G
ENST00000684203.1:n.3998C>G
ENST00000684231.1:c.*959C>G ENSP00000507748.1:n.*959C>G
ENST00000684263.1:c.*1173C>G ENSP00000508369.1:n.*1173C>G
ENST00000684305.1:c.1997C>G ENSP00000506819.1:n.1997C>G
ENST00000684602.1:c.*1215C>G ENSP00000507996.1:n.*1215C>G
ENST00000684667.1:c.1880C>G ENSP00000507003.1:n.1880C>G