Canonical Allele Identifier: CA272609462

Gene: HEXA

Linked Data

• dbSNP Id: rs565647073
• gnomAD v2: 15-72638220-A-G
• gnomAD v3: 15-72345879-A-G
• gnomAD v4: 15-72345879-A-G
• MyVariant Identifiers: chr15:g.72638220A>G (hg19) ; chr15:g.72345879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345879A>G , CM000677.2:g.72345879A>G	GRCh38
NC_000015.9:g.72638220A>G , CM000677.1:g.72638220A>G	GRCh37
NC_000015.8:g.70425274A>G	NCBI36
NG_009017.1:g.35301T>C
NG_009017.2:g.35301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-329T>C	ENSP00000457521.2:n.*82-329T>C
ENST00000682061.1:c.*1439T>C	ENSP00000508316.1:n.*1439T>C
ENST00000682064.1:n.1320T>C
ENST00000682177.1:c.1465-329T>C	ENSP00000507409.1:n.1465-329T>C
ENST00000682235.1:n.1116T>C
ENST00000682461.1:c.1528-329T>C	ENSP00000507308.1:n.1528-329T>C
ENST00000682653.1:n.2097T>C
ENST00000682657.1:c.*930T>C	ENSP00000507753.1:n.*930T>C
ENST00000682721.1:c.*1225-329T>C	ENSP00000507535.1:n.*1225-329T>C
ENST00000682843.1:c.*1063-329T>C	ENSP00000508173.1:n.*1063-329T>C
ENST00000683003.1:c.*930T>C	ENSP00000507576.1:n.*930T>C
ENST00000683133.1:c.1606-329T>C	ENSP00000508108.1:n.1606-329T>C
ENST00000683243.1:c.*575-329T>C	ENSP00000507042.1:n.*575-329T>C
ENST00000683463.1:c.*582T>C	ENSP00000507986.1:n.*582T>C
ENST00000683548.1:n.1551T>C
ENST00000683579.1:c.*1320-329T>C	ENSP00000506867.1:n.*1320-329T>C
ENST00000683587.1:n.1624T>C
ENST00000683681.1:c.1422-103T>C	ENSP00000508110.1:n.1422-103T>C
ENST00000683735.1:c.*1491T>C	ENSP00000508336.1:n.*1491T>C
ENST00000683853.1:c.*227-329T>C	ENSP00000506834.1:n.*227-329T>C
ENST00000683860.1:c.*213T>C	ENSP00000507179.1:n.*213T>C
ENST00000683884.1:c.*420T>C	ENSP00000507004.1:n.*420T>C
ENST00000684041.1:c.*352T>C	ENSP00000508382.1:n.*352T>C
ENST00000684125.1:c.*82-329T>C	ENSP00000507320.1:n.*82-329T>C
ENST00000684203.1:n.3542T>C
ENST00000684231.1:c.*832-329T>C	ENSP00000507748.1:n.*832-329T>C
ENST00000684263.1:c.*717T>C	ENSP00000508369.1:n.*717T>C
ENST00000684305.1:c.1870-329T>C	ENSP00000506819.1:n.1870-329T>C
ENST00000684415.1:c.*644T>C	ENSP00000507227.1:n.*644T>C
ENST00000684520.1:c.*352T>C	ENSP00000506826.1:n.*352T>C
ENST00000684602.1:c.*1088-329T>C	ENSP00000507996.1:n.*1088-329T>C
ENST00000684667.1:c.1753-329T>C	ENSP00000507003.1:n.1753-329T>C
ENST00000268097.10:c.1422-329T>C MANE Select	ENSP00000268097.6:n.1422-329T>C
ENST00000268097.9:c.1422-329T>C	ENSP00000268097.5:n.1422-329T>C
ENST00000379915.4:c.504-329T>C	ENSP00000478716.1:n.504-329T>C
ENST00000564677.5:n.11T>C
ENST00000565873.1:n.4T>C
ENST00000566304.5:c.1455-329T>C	ENSP00000455114.1:n.1455-329T>C
ENST00000567027.5:c.1037-329T>C
ENST00000567159.5:c.1422-329T>C	ENSP00000456489.1:n.1422-329T>C
ENST00000567411.5:c.*943-329T>C	ENSP00000455545.1:n.*943-329T>C
ENST00000568777.5:n.6642-329T>C
NM_000520.4:c.1422-329T>C	NP_000511.2:n.1422-329T>C
NM_000520.5:c.1422-329T>C	NP_000511.2:n.1422-329T>C
NM_001318825.1:c.1455-329T>C	NP_001305754.1:n.1455-329T>C
NR_134869.1:n.1666-329T>C
NM_000520.6:c.1422-329T>C MANE Select	NP_000511.2:n.1422-329T>C
NM_001318825.2:c.1455-329T>C	NP_001305754.1:n.1455-329T>C
NR_134869.2:n.1207-329T>C
NR_134869.3:n.1207-329T>C