Canonical Allele Identifier: CA393058876

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345539-C-A
• MyVariant Identifiers: chr15:g.72637880C>A (hg19) ; chr15:g.72345539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345539C>A , CM000677.2:g.72345539C>A	GRCh38
NC_000015.9:g.72637880C>A , CM000677.1:g.72637880C>A	GRCh37
NC_000015.8:g.70424934C>A	NCBI36
NG_009017.1:g.35641G>T
NG_009017.2:g.35641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*93G>T	ENSP00000457521.2:n.*93G>T
ENST00000682061.1:c.*1779G>T	ENSP00000508316.1:n.*1779G>T
ENST00000682064.1:n.1660G>T
ENST00000682177.1:c.1476G>T	ENSP00000507409.1:n.1476G>T
ENST00000682235.1:n.1456G>T
ENST00000682461.1:c.1539G>T	ENSP00000507308.1:n.1539G>T
ENST00000682653.1:n.2437G>T
ENST00000682657.1:c.*1270G>T	ENSP00000507753.1:n.*1270G>T
ENST00000682721.1:c.*1236G>T	ENSP00000507535.1:n.*1236G>T
ENST00000682843.1:c.*1074G>T	ENSP00000508173.1:n.*1074G>T
ENST00000683003.1:c.*1270G>T	ENSP00000507576.1:n.*1270G>T
ENST00000683133.1:c.1617G>T	ENSP00000508108.1:n.1617G>T
ENST00000683243.1:c.*586G>T	ENSP00000507042.1:n.*586G>T
ENST00000683463.1:c.*922G>T	ENSP00000507986.1:n.*922G>T
ENST00000683548.1:n.1891G>T
ENST00000683579.1:c.*1331G>T	ENSP00000506867.1:n.*1331G>T
ENST00000683587.1:n.1964G>T
ENST00000683681.1:c.*111G>T	ENSP00000508110.1:n.*111G>T
ENST00000683735.1:c.*1831G>T	ENSP00000508336.1:n.*1831G>T
ENST00000683853.1:c.*238G>T	ENSP00000506834.1:n.*238G>T
ENST00000683860.1:c.*553G>T	ENSP00000507179.1:n.*553G>T
ENST00000683884.1:c.*760G>T	ENSP00000507004.1:n.*760G>T
ENST00000684041.1:c.*566G>T	ENSP00000508382.1:n.*566G>T
ENST00000684125.1:c.*93G>T	ENSP00000507320.1:n.*93G>T
ENST00000684203.1:n.3882G>T
ENST00000684231.1:c.*843G>T	ENSP00000507748.1:n.*843G>T
ENST00000684263.1:c.*1057G>T	ENSP00000508369.1:n.*1057G>T
ENST00000684305.1:c.1881G>T	ENSP00000506819.1:n.1881G>T
ENST00000684415.1:c.*984G>T	ENSP00000507227.1:n.*984G>T
ENST00000684520.1:c.*692G>T	ENSP00000506826.1:n.*692G>T
ENST00000684602.1:c.*1099G>T	ENSP00000507996.1:n.*1099G>T
ENST00000684667.1:c.1764G>T	ENSP00000507003.1:n.1764G>T
ENST00000268097.10:c.1433G>T MANE Select	ENSP00000268097.6:p.Gly478Val
ENST00000268097.9:c.1433G>T	ENSP00000268097.5:p.Gly478Val
ENST00000379915.4:c.515G>T	ENSP00000478716.1:p.Gly172Val
ENST00000564677.5:n.225G>T
ENST00000565873.1:n.344G>T
ENST00000566304.5:c.1466G>T	ENSP00000455114.1:p.Gly489Val
ENST00000567027.5:c.1048G>T
ENST00000567159.5:c.1433G>T	ENSP00000456489.1:p.Gly478Val
ENST00000567411.5:c.*954G>T	ENSP00000455545.1:n.*954G>T
ENST00000568777.5:n.6653G>T
ENST00000569116.1:n.140G>T
NM_000520.4:c.1433G>T	NP_000511.2:p.Gly478Val
NM_000520.5:c.1433G>T	NP_000511.2:p.Gly478Val
NM_001318825.1:c.1466G>T	NP_001305754.1:p.Gly489Val
NR_134869.1:n.1677G>T
NM_000520.6:c.1433G>T MANE Select	NP_000511.2:p.Gly478Val
NM_001318825.2:c.1466G>T	NP_001305754.1:p.Gly489Val
NR_134869.2:n.1218G>T
NR_134869.3:n.1218G>T