Canonical Allele Identifier: CA393059361

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638654T>G (hg19) ; chr15:g.72346313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346313T>G , CM000677.2:g.72346313T>G	GRCh38
NC_000015.9:g.72638654T>G , CM000677.1:g.72638654T>G	GRCh37
NC_000015.8:g.70425708T>G	NCBI36
NG_009017.1:g.34867A>C
NG_009017.2:g.34867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*3A>C	ENSP00000457521.2:n.*3A>C
ENST00000682061.1:c.*1005A>C	ENSP00000508316.1:n.*1005A>C
ENST00000682064.1:n.886A>C
ENST00000682177.1:c.1386A>C	ENSP00000507409.1:n.1386A>C
ENST00000682235.1:n.682A>C
ENST00000682461.1:c.1449A>C	ENSP00000507308.1:n.1449A>C
ENST00000682653.1:n.1663A>C
ENST00000682657.1:c.*496A>C	ENSP00000507753.1:n.*496A>C
ENST00000682721.1:c.*1146A>C	ENSP00000507535.1:n.*1146A>C
ENST00000682843.1:c.*984A>C	ENSP00000508173.1:n.*984A>C
ENST00000683003.1:c.*496A>C	ENSP00000507576.1:n.*496A>C
ENST00000683133.1:c.1527A>C	ENSP00000508108.1:n.1527A>C
ENST00000683243.1:c.*496A>C	ENSP00000507042.1:n.*496A>C
ENST00000683463.1:c.*148A>C	ENSP00000507986.1:n.*148A>C
ENST00000683548.1:n.1117A>C
ENST00000683579.1:c.*1241A>C	ENSP00000506867.1:n.*1241A>C
ENST00000683587.1:n.1190A>C
ENST00000683681.1:c.1343A>C	ENSP00000508110.1:p.Gln448Pro
ENST00000683735.1:c.*1057A>C	ENSP00000508336.1:n.*1057A>C
ENST00000683853.1:c.*148A>C	ENSP00000506834.1:n.*148A>C
ENST00000683860.1:c.1343A>C	ENSP00000507179.1:p.Gln448Pro
ENST00000683884.1:c.1159A>C	ENSP00000507004.1:p.Arg387=
ENST00000684041.1:c.1343A>C	ENSP00000508382.1:p.Gln448Pro
ENST00000684125.1:c.*3A>C	ENSP00000507320.1:n.*3A>C
ENST00000684203.1:n.3108A>C
ENST00000684231.1:c.*753A>C	ENSP00000507748.1:n.*753A>C
ENST00000684263.1:c.*283A>C	ENSP00000508369.1:n.*283A>C
ENST00000684305.1:c.1791A>C	ENSP00000506819.1:n.1791A>C
ENST00000684415.1:c.*210A>C	ENSP00000507227.1:n.*210A>C
ENST00000684520.1:c.1343A>C	ENSP00000506826.1:p.Gln448Pro
ENST00000684602.1:c.*1009A>C	ENSP00000507996.1:n.*1009A>C
ENST00000684667.1:c.1674A>C	ENSP00000507003.1:n.1674A>C
ENST00000268097.10:c.1343A>C MANE Select	ENSP00000268097.6:p.Gln448Pro
ENST00000268097.9:c.1343A>C	ENSP00000268097.5:p.Gln448Pro
ENST00000379915.4:c.425A>C	ENSP00000478716.1:p.Gln142Pro
ENST00000563762.5:c.838A>C	ENSP00000456346.1:n.838A>C
ENST00000566304.5:c.1376A>C	ENSP00000455114.1:p.Gln459Pro
ENST00000566672.5:c.*753A>C	ENSP00000457037.1:n.*753A>C
ENST00000567027.5:c.958A>C
ENST00000567159.5:c.1343A>C	ENSP00000456489.1:p.Gln448Pro
ENST00000567411.5:c.*864A>C	ENSP00000455545.1:n.*864A>C
ENST00000568777.5:n.6563A>C
ENST00000569410.5:c.*148A>C	ENSP00000457125.1:n.*148A>C
NM_000520.4:c.1343A>C	NP_000511.2:p.Gln448Pro
NM_000520.5:c.1343A>C	NP_000511.2:p.Gln448Pro
NM_001318825.1:c.1376A>C	NP_001305754.1:p.Gln459Pro
NR_134869.1:n.1587A>C
NM_000520.6:c.1343A>C MANE Select	NP_000511.2:p.Gln448Pro
NM_001318825.2:c.1376A>C	NP_001305754.1:p.Gln459Pro
NR_134869.2:n.1128A>C
NR_134869.3:n.1128A>C