Canonical Allele Identifier: CA393059351

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638651T>G (hg19) ; chr15:g.72346310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346310T>G , CM000677.2:g.72346310T>G	GRCh38
NC_000015.9:g.72638651T>G , CM000677.1:g.72638651T>G	GRCh37
NC_000015.8:g.70425705T>G	NCBI36
NG_009017.1:g.34870A>C
NG_009017.2:g.34870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*6A>C	ENSP00000457521.2:n.*6A>C
ENST00000682061.1:c.*1008A>C	ENSP00000508316.1:n.*1008A>C
ENST00000682064.1:n.889A>C
ENST00000682177.1:c.1389A>C	ENSP00000507409.1:n.1389A>C
ENST00000682235.1:n.685A>C
ENST00000682461.1:c.1452A>C	ENSP00000507308.1:n.1452A>C
ENST00000682653.1:n.1666A>C
ENST00000682657.1:c.*499A>C	ENSP00000507753.1:n.*499A>C
ENST00000682721.1:c.*1149A>C	ENSP00000507535.1:n.*1149A>C
ENST00000682843.1:c.*987A>C	ENSP00000508173.1:n.*987A>C
ENST00000683003.1:c.*499A>C	ENSP00000507576.1:n.*499A>C
ENST00000683133.1:c.1530A>C	ENSP00000508108.1:n.1530A>C
ENST00000683243.1:c.*499A>C	ENSP00000507042.1:n.*499A>C
ENST00000683463.1:c.*151A>C	ENSP00000507986.1:n.*151A>C
ENST00000683548.1:n.1120A>C
ENST00000683579.1:c.*1244A>C	ENSP00000506867.1:n.*1244A>C
ENST00000683587.1:n.1193A>C
ENST00000683681.1:c.1346A>C	ENSP00000508110.1:p.Lys449Thr
ENST00000683735.1:c.*1060A>C	ENSP00000508336.1:n.*1060A>C
ENST00000683853.1:c.*151A>C	ENSP00000506834.1:n.*151A>C
ENST00000683860.1:c.1346A>C	ENSP00000507179.1:p.Lys449Thr
ENST00000683884.1:c.1162A>C	ENSP00000507004.1:p.Arg388=
ENST00000684041.1:c.1346A>C	ENSP00000508382.1:p.Lys449Thr
ENST00000684125.1:c.*6A>C	ENSP00000507320.1:n.*6A>C
ENST00000684203.1:n.3111A>C
ENST00000684231.1:c.*756A>C	ENSP00000507748.1:n.*756A>C
ENST00000684263.1:c.*286A>C	ENSP00000508369.1:n.*286A>C
ENST00000684305.1:c.1794A>C	ENSP00000506819.1:n.1794A>C
ENST00000684415.1:c.*213A>C	ENSP00000507227.1:n.*213A>C
ENST00000684520.1:c.1346A>C	ENSP00000506826.1:p.Lys449Thr
ENST00000684602.1:c.*1012A>C	ENSP00000507996.1:n.*1012A>C
ENST00000684667.1:c.1677A>C	ENSP00000507003.1:n.1677A>C
ENST00000268097.10:c.1346A>C MANE Select	ENSP00000268097.6:p.Lys449Thr
ENST00000268097.9:c.1346A>C	ENSP00000268097.5:p.Lys449Thr
ENST00000379915.4:c.428A>C	ENSP00000478716.1:p.Lys143Thr
ENST00000563762.5:c.841A>C	ENSP00000456346.1:n.841A>C
ENST00000566304.5:c.1379A>C	ENSP00000455114.1:p.Lys460Thr
ENST00000566672.5:c.*756A>C	ENSP00000457037.1:n.*756A>C
ENST00000567027.5:c.961A>C
ENST00000567159.5:c.1346A>C	ENSP00000456489.1:p.Lys449Thr
ENST00000567411.5:c.*867A>C	ENSP00000455545.1:n.*867A>C
ENST00000568777.5:n.6566A>C
ENST00000569410.5:c.*151A>C	ENSP00000457125.1:n.*151A>C
NM_000520.4:c.1346A>C	NP_000511.2:p.Lys449Thr
NM_000520.5:c.1346A>C	NP_000511.2:p.Lys449Thr
NM_001318825.1:c.1379A>C	NP_001305754.1:p.Lys460Thr
NR_134869.1:n.1590A>C
NM_000520.6:c.1346A>C MANE Select	NP_000511.2:p.Lys449Thr
NM_001318825.2:c.1379A>C	NP_001305754.1:p.Lys460Thr
NR_134869.2:n.1131A>C
NR_134869.3:n.1131A>C