Canonical Allele Identifier: CA393058580

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637814A>G (hg19) ; chr15:g.72345473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345473A>G , CM000677.2:g.72345473A>G	GRCh38
NC_000015.9:g.72637814A>G , CM000677.1:g.72637814A>G	GRCh37
NC_000015.8:g.70424868A>G	NCBI36
NG_009017.1:g.35707T>C
NG_009017.2:g.35707T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*159T>C	ENSP00000457521.2:n.*159T>C
ENST00000682061.1:c.*1845T>C	ENSP00000508316.1:n.*1845T>C
ENST00000682064.1:n.1726T>C
ENST00000682177.1:c.1542T>C	ENSP00000507409.1:n.1542T>C
ENST00000682235.1:n.1522T>C
ENST00000682461.1:c.1605T>C	ENSP00000507308.1:n.1605T>C
ENST00000682653.1:n.2503T>C
ENST00000682657.1:c.*1336T>C	ENSP00000507753.1:n.*1336T>C
ENST00000682721.1:c.*1302T>C	ENSP00000507535.1:n.*1302T>C
ENST00000682843.1:c.*1140T>C	ENSP00000508173.1:n.*1140T>C
ENST00000683003.1:c.*1336T>C	ENSP00000507576.1:n.*1336T>C
ENST00000683133.1:c.1683T>C	ENSP00000508108.1:n.1683T>C
ENST00000683243.1:c.*652T>C	ENSP00000507042.1:n.*652T>C
ENST00000683463.1:c.*988T>C	ENSP00000507986.1:n.*988T>C
ENST00000683548.1:n.1957T>C
ENST00000683579.1:c.*1397T>C	ENSP00000506867.1:n.*1397T>C
ENST00000683587.1:n.2030T>C
ENST00000683681.1:c.*177T>C	ENSP00000508110.1:n.*177T>C
ENST00000683735.1:c.*1897T>C	ENSP00000508336.1:n.*1897T>C
ENST00000683853.1:c.*304T>C	ENSP00000506834.1:n.*304T>C
ENST00000683860.1:c.*619T>C	ENSP00000507179.1:n.*619T>C
ENST00000683884.1:c.*826T>C	ENSP00000507004.1:n.*826T>C
ENST00000684041.1:c.*632T>C	ENSP00000508382.1:n.*632T>C
ENST00000684125.1:c.*159T>C	ENSP00000507320.1:n.*159T>C
ENST00000684203.1:n.3948T>C
ENST00000684231.1:c.*909T>C	ENSP00000507748.1:n.*909T>C
ENST00000684263.1:c.*1123T>C	ENSP00000508369.1:n.*1123T>C
ENST00000684305.1:c.1947T>C	ENSP00000506819.1:n.1947T>C
ENST00000684415.1:c.*1050T>C	ENSP00000507227.1:n.*1050T>C
ENST00000684520.1:c.*758T>C	ENSP00000506826.1:n.*758T>C
ENST00000684602.1:c.*1165T>C	ENSP00000507996.1:n.*1165T>C
ENST00000684667.1:c.1830T>C	ENSP00000507003.1:n.1830T>C
ENST00000268097.10:c.1499T>C MANE Select	ENSP00000268097.6:p.Leu500Ser
ENST00000268097.9:c.1499T>C	ENSP00000268097.5:p.Leu500Ser
ENST00000379915.4:c.581T>C	ENSP00000478716.1:p.Leu194Ser
ENST00000564677.5:n.291T>C
ENST00000565873.1:n.410T>C
ENST00000566304.5:c.1532T>C	ENSP00000455114.1:p.Leu511Ser
ENST00000567027.5:c.1114T>C
ENST00000567159.5:c.1499T>C	ENSP00000456489.1:p.Leu500Ser
ENST00000567411.5:c.*1020T>C	ENSP00000455545.1:n.*1020T>C
ENST00000568777.5:n.6719T>C
ENST00000569116.1:n.206T>C
NM_000520.4:c.1499T>C	NP_000511.2:p.Leu500Ser
NM_000520.5:c.1499T>C	NP_000511.2:p.Leu500Ser
NM_001318825.1:c.1532T>C	NP_001305754.1:p.Leu511Ser
NR_134869.1:n.1743T>C
NM_000520.6:c.1499T>C MANE Select	NP_000511.2:p.Leu500Ser
NM_001318825.2:c.1532T>C	NP_001305754.1:p.Leu511Ser
NR_134869.2:n.1284T>C
NR_134869.3:n.1284T>C