Canonical Allele Identifier: CA393058571

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637813C>A (hg19) ; chr15:g.72345472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345472C>A , CM000677.2:g.72345472C>A	GRCh38
NC_000015.9:g.72637813C>A , CM000677.1:g.72637813C>A	GRCh37
NC_000015.8:g.70424867C>A	NCBI36
NG_009017.1:g.35708G>T
NG_009017.2:g.35708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*160G>T	ENSP00000457521.2:n.*160G>T
ENST00000682061.1:c.*1846G>T	ENSP00000508316.1:n.*1846G>T
ENST00000682064.1:n.1727G>T
ENST00000682177.1:c.1543G>T	ENSP00000507409.1:n.1543G>T
ENST00000682235.1:n.1523G>T
ENST00000682461.1:c.1606G>T	ENSP00000507308.1:n.1606G>T
ENST00000682653.1:n.2504G>T
ENST00000682657.1:c.*1337G>T	ENSP00000507753.1:n.*1337G>T
ENST00000682721.1:c.*1303G>T	ENSP00000507535.1:n.*1303G>T
ENST00000682843.1:c.*1141G>T	ENSP00000508173.1:n.*1141G>T
ENST00000683003.1:c.*1337G>T	ENSP00000507576.1:n.*1337G>T
ENST00000683133.1:c.1684G>T	ENSP00000508108.1:n.1684G>T
ENST00000683243.1:c.*653G>T	ENSP00000507042.1:n.*653G>T
ENST00000683463.1:c.*989G>T	ENSP00000507986.1:n.*989G>T
ENST00000683548.1:n.1958G>T
ENST00000683579.1:c.*1398G>T	ENSP00000506867.1:n.*1398G>T
ENST00000683587.1:n.2031G>T
ENST00000683681.1:c.*178G>T	ENSP00000508110.1:n.*178G>T
ENST00000683735.1:c.*1898G>T	ENSP00000508336.1:n.*1898G>T
ENST00000683853.1:c.*305G>T	ENSP00000506834.1:n.*305G>T
ENST00000683860.1:c.*620G>T	ENSP00000507179.1:n.*620G>T
ENST00000683884.1:c.*827G>T	ENSP00000507004.1:n.*827G>T
ENST00000684041.1:c.*633G>T	ENSP00000508382.1:n.*633G>T
ENST00000684125.1:c.*160G>T	ENSP00000507320.1:n.*160G>T
ENST00000684203.1:n.3949G>T
ENST00000684231.1:c.*910G>T	ENSP00000507748.1:n.*910G>T
ENST00000684263.1:c.*1124G>T	ENSP00000508369.1:n.*1124G>T
ENST00000684305.1:c.1948G>T	ENSP00000506819.1:n.1948G>T
ENST00000684415.1:c.*1051G>T	ENSP00000507227.1:n.*1051G>T
ENST00000684520.1:c.*759G>T	ENSP00000506826.1:n.*759G>T
ENST00000684602.1:c.*1166G>T	ENSP00000507996.1:n.*1166G>T
ENST00000684667.1:c.1831G>T	ENSP00000507003.1:n.1831G>T
ENST00000268097.10:c.1500G>T MANE Select	ENSP00000268097.6:p.Leu500Phe
ENST00000268097.9:c.1500G>T	ENSP00000268097.5:p.Leu500Phe
ENST00000379915.4:c.582G>T	ENSP00000478716.1:p.Leu194Phe
ENST00000564677.5:n.292G>T
ENST00000565873.1:n.411G>T
ENST00000566304.5:c.1533G>T	ENSP00000455114.1:p.Leu511Phe
ENST00000567027.5:c.1115G>T
ENST00000567159.5:c.1500G>T	ENSP00000456489.1:p.Leu500Phe
ENST00000567411.5:c.*1021G>T	ENSP00000455545.1:n.*1021G>T
ENST00000568777.5:n.6720G>T
ENST00000569116.1:n.207G>T
NM_000520.4:c.1500G>T	NP_000511.2:p.Leu500Phe
NM_000520.5:c.1500G>T	NP_000511.2:p.Leu500Phe
NM_001318825.1:c.1533G>T	NP_001305754.1:p.Leu511Phe
NR_134869.1:n.1744G>T
NM_000520.6:c.1500G>T MANE Select	NP_000511.2:p.Leu500Phe
NM_001318825.2:c.1533G>T	NP_001305754.1:p.Leu511Phe
NR_134869.2:n.1285G>T
NR_134869.3:n.1285G>T