Canonical Allele Identifier: CA393058923

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637890G>T (hg19) ; chr15:g.72345549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345549G>T , CM000677.2:g.72345549G>T	GRCh38
NC_000015.9:g.72637890G>T , CM000677.1:g.72637890G>T	GRCh37
NC_000015.8:g.70424944G>T	NCBI36
NG_009017.1:g.35631C>A
NG_009017.2:g.35631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*83C>A	ENSP00000457521.2:n.*83C>A
ENST00000682061.1:c.*1769C>A	ENSP00000508316.1:n.*1769C>A
ENST00000682064.1:n.1650C>A
ENST00000682177.1:c.1466C>A	ENSP00000507409.1:n.1466C>A
ENST00000682235.1:n.1446C>A
ENST00000682461.1:c.1529C>A	ENSP00000507308.1:n.1529C>A
ENST00000682653.1:n.2427C>A
ENST00000682657.1:c.*1260C>A	ENSP00000507753.1:n.*1260C>A
ENST00000682721.1:c.*1226C>A	ENSP00000507535.1:n.*1226C>A
ENST00000682843.1:c.*1064C>A	ENSP00000508173.1:n.*1064C>A
ENST00000683003.1:c.*1260C>A	ENSP00000507576.1:n.*1260C>A
ENST00000683133.1:c.1607C>A	ENSP00000508108.1:n.1607C>A
ENST00000683243.1:c.*576C>A	ENSP00000507042.1:n.*576C>A
ENST00000683463.1:c.*912C>A	ENSP00000507986.1:n.*912C>A
ENST00000683548.1:n.1881C>A
ENST00000683579.1:c.*1321C>A	ENSP00000506867.1:n.*1321C>A
ENST00000683587.1:n.1954C>A
ENST00000683681.1:c.*101C>A	ENSP00000508110.1:n.*101C>A
ENST00000683735.1:c.*1821C>A	ENSP00000508336.1:n.*1821C>A
ENST00000683853.1:c.*228C>A	ENSP00000506834.1:n.*228C>A
ENST00000683860.1:c.*543C>A	ENSP00000507179.1:n.*543C>A
ENST00000683884.1:c.*750C>A	ENSP00000507004.1:n.*750C>A
ENST00000684041.1:c.*556C>A	ENSP00000508382.1:n.*556C>A
ENST00000684125.1:c.*83C>A	ENSP00000507320.1:n.*83C>A
ENST00000684203.1:n.3872C>A
ENST00000684231.1:c.*833C>A	ENSP00000507748.1:n.*833C>A
ENST00000684263.1:c.*1047C>A	ENSP00000508369.1:n.*1047C>A
ENST00000684305.1:c.1871C>A	ENSP00000506819.1:n.1871C>A
ENST00000684415.1:c.*974C>A	ENSP00000507227.1:n.*974C>A
ENST00000684520.1:c.*682C>A	ENSP00000506826.1:n.*682C>A
ENST00000684602.1:c.*1089C>A	ENSP00000507996.1:n.*1089C>A
ENST00000684667.1:c.1754C>A	ENSP00000507003.1:n.1754C>A
ENST00000268097.10:c.1423C>A MANE Select	ENSP00000268097.6:p.Pro475Thr
ENST00000268097.9:c.1423C>A	ENSP00000268097.5:p.Pro475Thr
ENST00000379915.4:c.505C>A	ENSP00000478716.1:p.Pro169Thr
ENST00000564677.5:n.215C>A
ENST00000565873.1:n.334C>A
ENST00000566304.5:c.1456C>A	ENSP00000455114.1:p.Pro486Thr
ENST00000567027.5:c.1038C>A
ENST00000567159.5:c.1423C>A	ENSP00000456489.1:p.Pro475Thr
ENST00000567411.5:c.*944C>A	ENSP00000455545.1:n.*944C>A
ENST00000568777.5:n.6643C>A
ENST00000569116.1:n.130C>A
NM_000520.4:c.1423C>A	NP_000511.2:p.Pro475Thr
NM_000520.5:c.1423C>A	NP_000511.2:p.Pro475Thr
NM_001318825.1:c.1456C>A	NP_001305754.1:p.Pro486Thr
NR_134869.1:n.1667C>A
NM_000520.6:c.1423C>A MANE Select	NP_000511.2:p.Pro475Thr
NM_001318825.2:c.1456C>A	NP_001305754.1:p.Pro486Thr
NR_134869.2:n.1208C>A
NR_134869.3:n.1208C>A