Canonical Allele Identifier: CA393058860

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637874A>T (hg19) ; chr15:g.72345533A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345533A>T , CM000677.2:g.72345533A>T	GRCh38
NC_000015.9:g.72637874A>T , CM000677.1:g.72637874A>T	GRCh37
NC_000015.8:g.70424928A>T	NCBI36
NG_009017.1:g.35647T>A
NG_009017.2:g.35647T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*99T>A	ENSP00000457521.2:n.*99T>A
ENST00000682061.1:c.*1785T>A	ENSP00000508316.1:n.*1785T>A
ENST00000682064.1:n.1666T>A
ENST00000682177.1:c.1482T>A	ENSP00000507409.1:n.1482T>A
ENST00000682235.1:n.1462T>A
ENST00000682461.1:c.1545T>A	ENSP00000507308.1:n.1545T>A
ENST00000682653.1:n.2443T>A
ENST00000682657.1:c.*1276T>A	ENSP00000507753.1:n.*1276T>A
ENST00000682721.1:c.*1242T>A	ENSP00000507535.1:n.*1242T>A
ENST00000682843.1:c.*1080T>A	ENSP00000508173.1:n.*1080T>A
ENST00000683003.1:c.*1276T>A	ENSP00000507576.1:n.*1276T>A
ENST00000683133.1:c.1623T>A	ENSP00000508108.1:n.1623T>A
ENST00000683243.1:c.*592T>A	ENSP00000507042.1:n.*592T>A
ENST00000683463.1:c.*928T>A	ENSP00000507986.1:n.*928T>A
ENST00000683548.1:n.1897T>A
ENST00000683579.1:c.*1337T>A	ENSP00000506867.1:n.*1337T>A
ENST00000683587.1:n.1970T>A
ENST00000683681.1:c.*117T>A	ENSP00000508110.1:n.*117T>A
ENST00000683735.1:c.*1837T>A	ENSP00000508336.1:n.*1837T>A
ENST00000683853.1:c.*244T>A	ENSP00000506834.1:n.*244T>A
ENST00000683860.1:c.*559T>A	ENSP00000507179.1:n.*559T>A
ENST00000683884.1:c.*766T>A	ENSP00000507004.1:n.*766T>A
ENST00000684041.1:c.*572T>A	ENSP00000508382.1:n.*572T>A
ENST00000684125.1:c.*99T>A	ENSP00000507320.1:n.*99T>A
ENST00000684203.1:n.3888T>A
ENST00000684231.1:c.*849T>A	ENSP00000507748.1:n.*849T>A
ENST00000684263.1:c.*1063T>A	ENSP00000508369.1:n.*1063T>A
ENST00000684305.1:c.1887T>A	ENSP00000506819.1:n.1887T>A
ENST00000684415.1:c.*990T>A	ENSP00000507227.1:n.*990T>A
ENST00000684520.1:c.*698T>A	ENSP00000506826.1:n.*698T>A
ENST00000684602.1:c.*1105T>A	ENSP00000507996.1:n.*1105T>A
ENST00000684667.1:c.1770T>A	ENSP00000507003.1:n.1770T>A
ENST00000268097.10:c.1439T>A MANE Select	ENSP00000268097.6:p.Val480Asp
ENST00000268097.9:c.1439T>A	ENSP00000268097.5:p.Val480Asp
ENST00000379915.4:c.521T>A	ENSP00000478716.1:p.Val174Asp
ENST00000564677.5:n.231T>A
ENST00000565873.1:n.350T>A
ENST00000566304.5:c.1472T>A	ENSP00000455114.1:p.Val491Asp
ENST00000567027.5:c.1054T>A
ENST00000567159.5:c.1439T>A	ENSP00000456489.1:p.Val480Asp
ENST00000567411.5:c.*960T>A	ENSP00000455545.1:n.*960T>A
ENST00000568777.5:n.6659T>A
ENST00000569116.1:n.146T>A
NM_000520.4:c.1439T>A	NP_000511.2:p.Val480Asp
NM_000520.5:c.1439T>A	NP_000511.2:p.Val480Asp
NM_001318825.1:c.1472T>A	NP_001305754.1:p.Val491Asp
NR_134869.1:n.1683T>A
NM_000520.6:c.1439T>A MANE Select	NP_000511.2:p.Val480Asp
NM_001318825.2:c.1472T>A	NP_001305754.1:p.Val491Asp
NR_134869.2:n.1224T>A
NR_134869.3:n.1224T>A