Canonical Allele Identifier: CA393059149

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638607C>G (hg19) ; chr15:g.72346266C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346266C>G , CM000677.2:g.72346266C>G	GRCh38
NC_000015.9:g.72638607C>G , CM000677.1:g.72638607C>G	GRCh37
NC_000015.8:g.70425661C>G	NCBI36
NG_009017.1:g.34914G>C
NG_009017.2:g.34914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*50G>C	ENSP00000457521.2:n.*50G>C
ENST00000682061.1:c.*1052G>C	ENSP00000508316.1:n.*1052G>C
ENST00000682064.1:n.933G>C
ENST00000682177.1:c.1433G>C	ENSP00000507409.1:n.1433G>C
ENST00000682235.1:n.729G>C
ENST00000682461.1:c.1496G>C	ENSP00000507308.1:n.1496G>C
ENST00000682653.1:n.1710G>C
ENST00000682657.1:c.*543G>C	ENSP00000507753.1:n.*543G>C
ENST00000682721.1:c.*1193G>C	ENSP00000507535.1:n.*1193G>C
ENST00000682843.1:c.*1031G>C	ENSP00000508173.1:n.*1031G>C
ENST00000683003.1:c.*543G>C	ENSP00000507576.1:n.*543G>C
ENST00000683133.1:c.1574G>C	ENSP00000508108.1:n.1574G>C
ENST00000683243.1:c.*543G>C	ENSP00000507042.1:n.*543G>C
ENST00000683463.1:c.*195G>C	ENSP00000507986.1:n.*195G>C
ENST00000683548.1:n.1164G>C
ENST00000683579.1:c.*1288G>C	ENSP00000506867.1:n.*1288G>C
ENST00000683587.1:n.1237G>C
ENST00000683681.1:c.1390G>C	ENSP00000508110.1:p.Val464Leu
ENST00000683735.1:c.*1104G>C	ENSP00000508336.1:n.*1104G>C
ENST00000683853.1:c.*195G>C	ENSP00000506834.1:n.*195G>C
ENST00000683860.1:c.1390G>C	ENSP00000507179.1:p.Val464Leu
ENST00000683884.1:c.*33G>C	ENSP00000507004.1:n.*33G>C
ENST00000684041.1:c.1390G>C	ENSP00000508382.1:p.Val464Leu
ENST00000684125.1:c.*50G>C	ENSP00000507320.1:n.*50G>C
ENST00000684203.1:n.3155G>C
ENST00000684231.1:c.*800G>C	ENSP00000507748.1:n.*800G>C
ENST00000684263.1:c.*330G>C	ENSP00000508369.1:n.*330G>C
ENST00000684305.1:c.1838G>C	ENSP00000506819.1:n.1838G>C
ENST00000684415.1:c.*257G>C	ENSP00000507227.1:n.*257G>C
ENST00000684520.1:c.1390G>C	ENSP00000506826.1:p.Val464Leu
ENST00000684602.1:c.*1056G>C	ENSP00000507996.1:n.*1056G>C
ENST00000684667.1:c.1721G>C	ENSP00000507003.1:n.1721G>C
ENST00000268097.10:c.1390G>C MANE Select	ENSP00000268097.6:p.Val464Leu
ENST00000268097.9:c.1390G>C	ENSP00000268097.5:p.Val464Leu
ENST00000379915.4:c.472G>C	ENSP00000478716.1:p.Val158Leu
ENST00000563762.5:c.885G>C	ENSP00000456346.1:n.885G>C
ENST00000566304.5:c.1423G>C	ENSP00000455114.1:p.Val475Leu
ENST00000566672.5:c.*800G>C	ENSP00000457037.1:n.*800G>C
ENST00000567027.5:c.1005G>C
ENST00000567159.5:c.1390G>C	ENSP00000456489.1:p.Val464Leu
ENST00000567411.5:c.*911G>C	ENSP00000455545.1:n.*911G>C
ENST00000568777.5:n.6610G>C
ENST00000569410.5:c.*195G>C	ENSP00000457125.1:n.*195G>C
NM_000520.4:c.1390G>C	NP_000511.2:p.Val464Leu
NM_000520.5:c.1390G>C	NP_000511.2:p.Val464Leu
NM_001318825.1:c.1423G>C	NP_001305754.1:p.Val475Leu
NR_134869.1:n.1634G>C
NM_000520.6:c.1390G>C MANE Select	NP_000511.2:p.Val464Leu
NM_001318825.2:c.1423G>C	NP_001305754.1:p.Val475Leu
NR_134869.2:n.1175G>C
NR_134869.3:n.1175G>C