Canonical Allele Identifier: CA272609421

Gene: HEXA

Linked Data

• dbSNP Id: rs1007040852
• gnomAD v4: 15-72345803-C-A
• MyVariant Identifiers: chr15:g.72638144C>A (hg19) ; chr15:g.72345803C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345803C>A , CM000677.2:g.72345803C>A	GRCh38
NC_000015.9:g.72638144C>A , CM000677.1:g.72638144C>A	GRCh37
NC_000015.8:g.70425198C>A	NCBI36
NG_009017.1:g.35377G>T
NG_009017.2:g.35377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-253G>T	ENSP00000457521.2:n.*82-253G>T
ENST00000682061.1:c.*1515G>T	ENSP00000508316.1:n.*1515G>T
ENST00000682064.1:n.1396G>T
ENST00000682177.1:c.1465-253G>T	ENSP00000507409.1:n.1465-253G>T
ENST00000682235.1:n.1192G>T
ENST00000682461.1:c.1528-253G>T	ENSP00000507308.1:n.1528-253G>T
ENST00000682653.1:n.2173G>T
ENST00000682657.1:c.*1006G>T	ENSP00000507753.1:n.*1006G>T
ENST00000682721.1:c.*1225-253G>T	ENSP00000507535.1:n.*1225-253G>T
ENST00000682843.1:c.*1063-253G>T	ENSP00000508173.1:n.*1063-253G>T
ENST00000683003.1:c.*1006G>T	ENSP00000507576.1:n.*1006G>T
ENST00000683133.1:c.1606-253G>T	ENSP00000508108.1:n.1606-253G>T
ENST00000683243.1:c.*575-253G>T	ENSP00000507042.1:n.*575-253G>T
ENST00000683463.1:c.*658G>T	ENSP00000507986.1:n.*658G>T
ENST00000683548.1:n.1627G>T
ENST00000683579.1:c.*1320-253G>T	ENSP00000506867.1:n.*1320-253G>T
ENST00000683587.1:n.1700G>T
ENST00000683681.1:c.1422-27G>T	ENSP00000508110.1:n.1422-27G>T
ENST00000683735.1:c.*1567G>T	ENSP00000508336.1:n.*1567G>T
ENST00000683853.1:c.*227-253G>T	ENSP00000506834.1:n.*227-253G>T
ENST00000683860.1:c.*289G>T	ENSP00000507179.1:n.*289G>T
ENST00000683884.1:c.*496G>T	ENSP00000507004.1:n.*496G>T
ENST00000684041.1:c.*428G>T	ENSP00000508382.1:n.*428G>T
ENST00000684125.1:c.*82-253G>T	ENSP00000507320.1:n.*82-253G>T
ENST00000684203.1:n.3618G>T
ENST00000684231.1:c.*832-253G>T	ENSP00000507748.1:n.*832-253G>T
ENST00000684263.1:c.*793G>T	ENSP00000508369.1:n.*793G>T
ENST00000684305.1:c.1870-253G>T	ENSP00000506819.1:n.1870-253G>T
ENST00000684415.1:c.*720G>T	ENSP00000507227.1:n.*720G>T
ENST00000684520.1:c.*428G>T	ENSP00000506826.1:n.*428G>T
ENST00000684602.1:c.*1088-253G>T	ENSP00000507996.1:n.*1088-253G>T
ENST00000684667.1:c.1753-253G>T	ENSP00000507003.1:n.1753-253G>T
ENST00000268097.10:c.1422-253G>T MANE Select	ENSP00000268097.6:n.1422-253G>T
ENST00000268097.9:c.1422-253G>T	ENSP00000268097.5:n.1422-253G>T
ENST00000379915.4:c.504-253G>T	ENSP00000478716.1:n.504-253G>T
ENST00000564677.5:n.87G>T
ENST00000565873.1:n.80G>T
ENST00000566304.5:c.1455-253G>T	ENSP00000455114.1:n.1455-253G>T
ENST00000567027.5:c.1037-253G>T
ENST00000567159.5:c.1422-253G>T	ENSP00000456489.1:n.1422-253G>T
ENST00000567411.5:c.*943-253G>T	ENSP00000455545.1:n.*943-253G>T
ENST00000568777.5:n.6642-253G>T
ENST00000569116.1:n.2G>T
NM_000520.4:c.1422-253G>T	NP_000511.2:n.1422-253G>T
NM_000520.5:c.1422-253G>T	NP_000511.2:n.1422-253G>T
NM_001318825.1:c.1455-253G>T	NP_001305754.1:n.1455-253G>T
NR_134869.1:n.1666-253G>T
NM_000520.6:c.1422-253G>T MANE Select	NP_000511.2:n.1422-253G>T
NM_001318825.2:c.1455-253G>T	NP_001305754.1:n.1455-253G>T
NR_134869.2:n.1207-253G>T
NR_134869.3:n.1207-253G>T