Canonical Allele Identifier: CA272610098

Gene: HEXA

Linked Data

• dbSNP Id: rs1035014194
• gnomAD v4: 15-72346547-A-G
• MyVariant Identifiers: chr15:g.72638888A>G (hg19) ; chr15:g.72346547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346547A>G , CM000677.2:g.72346547A>G	GRCh38
NC_000015.9:g.72638888A>G , CM000677.1:g.72638888A>G	GRCh37
NC_000015.8:g.70425942A>G	NCBI36
NG_009017.1:g.34633T>C
NG_009017.2:g.34633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-222T>C	ENSP00000457521.2:n.1074-222T>C
ENST00000682061.1:c.*972T>C	ENSP00000508316.1:n.*972T>C
ENST00000682064.1:n.652T>C
ENST00000682177.1:c.1353T>C	ENSP00000507409.1:n.1353T>C
ENST00000682235.1:n.649T>C
ENST00000682461.1:c.1416T>C	ENSP00000507308.1:n.1416T>C
ENST00000682653.1:n.1630T>C
ENST00000682657.1:c.*484-222T>C	ENSP00000507753.1:n.*484-222T>C
ENST00000682721.1:c.*1113T>C	ENSP00000507535.1:n.*1113T>C
ENST00000682843.1:c.*972-222T>C	ENSP00000508173.1:n.*972-222T>C
ENST00000683003.1:c.*484-222T>C	ENSP00000507576.1:n.*484-222T>C
ENST00000683133.1:c.1494T>C	ENSP00000508108.1:n.1494T>C
ENST00000683243.1:c.*484-222T>C	ENSP00000507042.1:n.*484-222T>C
ENST00000683463.1:c.*115T>C	ENSP00000507986.1:n.*115T>C
ENST00000683548.1:n.1105-222T>C
ENST00000683579.1:c.*1208T>C	ENSP00000506867.1:n.*1208T>C
ENST00000683587.1:n.1178-222T>C
ENST00000683681.1:c.1310T>C	ENSP00000508110.1:p.Val437Ala
ENST00000683735.1:c.*1045-222T>C	ENSP00000508336.1:n.*1045-222T>C
ENST00000683853.1:c.*115T>C	ENSP00000506834.1:n.*115T>C
ENST00000683860.1:c.1310T>C	ENSP00000507179.1:p.Val437Ala
ENST00000683884.1:c.1147-222T>C	ENSP00000507004.1:n.1147-222T>C
ENST00000684041.1:c.1310T>C	ENSP00000508382.1:p.Val437Ala
ENST00000684125.1:c.1074-222T>C	ENSP00000507320.1:n.1074-222T>C
ENST00000684203.1:n.3075T>C
ENST00000684231.1:c.*720T>C	ENSP00000507748.1:n.*720T>C
ENST00000684263.1:c.*250T>C	ENSP00000508369.1:n.*250T>C
ENST00000684305.1:c.1758T>C	ENSP00000506819.1:n.1758T>C
ENST00000684415.1:c.*177T>C	ENSP00000507227.1:n.*177T>C
ENST00000684520.1:c.1310T>C	ENSP00000506826.1:p.Val437Ala
ENST00000684602.1:c.*976T>C	ENSP00000507996.1:n.*976T>C
ENST00000684667.1:c.1641T>C	ENSP00000507003.1:n.1641T>C
ENST00000268097.10:c.1310T>C MANE Select	ENSP00000268097.6:p.Val437Ala
ENST00000268097.9:c.1310T>C	ENSP00000268097.5:p.Val437Ala
ENST00000379915.4:c.413-222T>C	ENSP00000478716.1:n.413-222T>C
ENST00000563762.5:c.826-222T>C	ENSP00000456346.1:n.826-222T>C
ENST00000566304.5:c.1343T>C	ENSP00000455114.1:p.Val448Ala
ENST00000566672.5:c.*720T>C	ENSP00000457037.1:n.*720T>C
ENST00000567027.5:c.946-222T>C
ENST00000567159.5:c.1310T>C	ENSP00000456489.1:p.Val437Ala
ENST00000567411.5:c.*831T>C	ENSP00000455545.1:n.*831T>C
ENST00000568777.5:n.6551-222T>C
ENST00000569410.5:c.*115T>C	ENSP00000457125.1:n.*115T>C
NM_000520.4:c.1310T>C	NP_000511.2:p.Val437Ala
NM_000520.5:c.1310T>C	NP_000511.2:p.Val437Ala
NM_001318825.1:c.1343T>C	NP_001305754.1:p.Val448Ala
NR_134869.1:n.1575-222T>C
NM_000520.6:c.1310T>C MANE Select	NP_000511.2:p.Val437Ala
NM_001318825.2:c.1343T>C	NP_001305754.1:p.Val448Ala
NR_134869.2:n.1116-222T>C
NR_134869.3:n.1116-222T>C