Canonical Allele Identifier: CA491112344

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637982C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345641C>G , CM000677.2:g.72345641C>G	GRCh38
NC_000015.9:g.72637982C>G , CM000677.1:g.72637982C>G	GRCh37
NC_000015.8:g.70425036C>G	NCBI36
NG_009017.1:g.35539G>C
NG_009017.2:g.35539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-91G>C	ENSP00000457521.2:n.*82-91G>C
ENST00000682061.1:c.*1677G>C	ENSP00000508316.1:n.*1677G>C
ENST00000682064.1:n.1558G>C
ENST00000682177.1:c.1465-91G>C	ENSP00000507409.1:n.1465-91G>C
ENST00000682235.1:n.1354G>C
ENST00000682461.1:c.1528-91G>C	ENSP00000507308.1:n.1528-91G>C
ENST00000682653.1:n.2335G>C
ENST00000682657.1:c.*1168G>C	ENSP00000507753.1:n.*1168G>C
ENST00000682721.1:c.*1225-91G>C	ENSP00000507535.1:n.*1225-91G>C
ENST00000682843.1:c.*1063-91G>C	ENSP00000508173.1:n.*1063-91G>C
ENST00000683003.1:c.*1168G>C	ENSP00000507576.1:n.*1168G>C
ENST00000683133.1:c.1606-91G>C	ENSP00000508108.1:n.1606-91G>C
ENST00000683243.1:c.*575-91G>C	ENSP00000507042.1:n.*575-91G>C
ENST00000683463.1:c.*820G>C	ENSP00000507986.1:n.*820G>C
ENST00000683548.1:n.1789G>C
ENST00000683579.1:c.*1320-91G>C	ENSP00000506867.1:n.*1320-91G>C
ENST00000683587.1:n.1862G>C
ENST00000683681.1:c.*99+36G>C	ENSP00000508110.1:n.*99+36G>C
ENST00000683735.1:c.*1729G>C	ENSP00000508336.1:n.*1729G>C
ENST00000683853.1:c.*227-91G>C	ENSP00000506834.1:n.*227-91G>C
ENST00000683860.1:c.*451G>C	ENSP00000507179.1:n.*451G>C
ENST00000683884.1:c.*658G>C	ENSP00000507004.1:n.*658G>C
ENST00000684041.1:c.*554+36G>C	ENSP00000508382.1:n.*554+36G>C
ENST00000684125.1:c.*82-91G>C	ENSP00000507320.1:n.*82-91G>C
ENST00000684203.1:n.3780G>C
ENST00000684231.1:c.*832-91G>C	ENSP00000507748.1:n.*832-91G>C
ENST00000684263.1:c.*955G>C	ENSP00000508369.1:n.*955G>C
ENST00000684305.1:c.1870-91G>C	ENSP00000506819.1:n.1870-91G>C
ENST00000684415.1:c.*882G>C	ENSP00000507227.1:n.*882G>C
ENST00000684520.1:c.*590G>C	ENSP00000506826.1:n.*590G>C
ENST00000684602.1:c.*1088-91G>C	ENSP00000507996.1:n.*1088-91G>C
ENST00000684667.1:c.1753-91G>C	ENSP00000507003.1:n.1753-91G>C
ENST00000268097.10:c.1422-91G>C MANE Select	ENSP00000268097.6:n.1422-91G>C
ENST00000268097.9:c.1422-91G>C	ENSP00000268097.5:n.1422-91G>C
ENST00000379915.4:c.504-91G>C	ENSP00000478716.1:n.504-91G>C
ENST00000564677.5:n.213+36G>C
ENST00000565873.1:n.242G>C
ENST00000566304.5:c.1455-91G>C	ENSP00000455114.1:n.1455-91G>C
ENST00000567027.5:c.1037-91G>C
ENST00000567159.5:c.1422-91G>C	ENSP00000456489.1:n.1422-91G>C
ENST00000567411.5:c.*943-91G>C	ENSP00000455545.1:n.*943-91G>C
ENST00000568777.5:n.6642-91G>C
ENST00000569116.1:n.128+36G>C
NM_000520.4:c.1422-91G>C	NP_000511.2:n.1422-91G>C
NM_000520.5:c.1422-91G>C	NP_000511.2:n.1422-91G>C
NM_001318825.1:c.1455-91G>C	NP_001305754.1:n.1455-91G>C
NR_134869.1:n.1666-91G>C
NM_000520.6:c.1422-91G>C MANE Select	NP_000511.2:n.1422-91G>C
NM_001318825.2:c.1455-91G>C	NP_001305754.1:n.1455-91G>C
NR_134869.2:n.1207-91G>C
NR_134869.3:n.1207-91G>C