Canonical Allele Identifier: CA491113218

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638119T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345778T>G , CM000677.2:g.72345778T>G	GRCh38
NC_000015.9:g.72638119T>G , CM000677.1:g.72638119T>G	GRCh37
NC_000015.8:g.70425173T>G	NCBI36
NG_009017.1:g.35402A>C
NG_009017.2:g.35402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-228A>C	ENSP00000457521.2:n.*82-228A>C
ENST00000682061.1:c.*1540A>C	ENSP00000508316.1:n.*1540A>C
ENST00000682064.1:n.1421A>C
ENST00000682177.1:c.1465-228A>C	ENSP00000507409.1:n.1465-228A>C
ENST00000682235.1:n.1217A>C
ENST00000682461.1:c.1528-228A>C	ENSP00000507308.1:n.1528-228A>C
ENST00000682653.1:n.2198A>C
ENST00000682657.1:c.*1031A>C	ENSP00000507753.1:n.*1031A>C
ENST00000682721.1:c.*1225-228A>C	ENSP00000507535.1:n.*1225-228A>C
ENST00000682843.1:c.*1063-228A>C	ENSP00000508173.1:n.*1063-228A>C
ENST00000683003.1:c.*1031A>C	ENSP00000507576.1:n.*1031A>C
ENST00000683133.1:c.1606-228A>C	ENSP00000508108.1:n.1606-228A>C
ENST00000683243.1:c.*575-228A>C	ENSP00000507042.1:n.*575-228A>C
ENST00000683463.1:c.*683A>C	ENSP00000507986.1:n.*683A>C
ENST00000683548.1:n.1652A>C
ENST00000683579.1:c.*1320-228A>C	ENSP00000506867.1:n.*1320-228A>C
ENST00000683587.1:n.1725A>C
ENST00000683681.1:c.1422-2A>C	ENSP00000508110.1:n.1422-2A>C
ENST00000683735.1:c.*1592A>C	ENSP00000508336.1:n.*1592A>C
ENST00000683853.1:c.*227-228A>C	ENSP00000506834.1:n.*227-228A>C
ENST00000683860.1:c.*314A>C	ENSP00000507179.1:n.*314A>C
ENST00000683884.1:c.*521A>C	ENSP00000507004.1:n.*521A>C
ENST00000684041.1:c.*453A>C	ENSP00000508382.1:n.*453A>C
ENST00000684125.1:c.*82-228A>C	ENSP00000507320.1:n.*82-228A>C
ENST00000684203.1:n.3643A>C
ENST00000684231.1:c.*832-228A>C	ENSP00000507748.1:n.*832-228A>C
ENST00000684263.1:c.*818A>C	ENSP00000508369.1:n.*818A>C
ENST00000684305.1:c.1870-228A>C	ENSP00000506819.1:n.1870-228A>C
ENST00000684415.1:c.*745A>C	ENSP00000507227.1:n.*745A>C
ENST00000684520.1:c.*453A>C	ENSP00000506826.1:n.*453A>C
ENST00000684602.1:c.*1088-228A>C	ENSP00000507996.1:n.*1088-228A>C
ENST00000684667.1:c.1753-228A>C	ENSP00000507003.1:n.1753-228A>C
ENST00000268097.10:c.1422-228A>C MANE Select	ENSP00000268097.6:n.1422-228A>C
ENST00000268097.9:c.1422-228A>C	ENSP00000268097.5:n.1422-228A>C
ENST00000379915.4:c.504-228A>C	ENSP00000478716.1:n.504-228A>C
ENST00000564677.5:n.112A>C
ENST00000565873.1:n.105A>C
ENST00000566304.5:c.1455-228A>C	ENSP00000455114.1:n.1455-228A>C
ENST00000567027.5:c.1037-228A>C
ENST00000567159.5:c.1422-228A>C	ENSP00000456489.1:n.1422-228A>C
ENST00000567411.5:c.*943-228A>C	ENSP00000455545.1:n.*943-228A>C
ENST00000568777.5:n.6642-228A>C
ENST00000569116.1:n.27A>C
NM_000520.4:c.1422-228A>C	NP_000511.2:n.1422-228A>C
NM_000520.5:c.1422-228A>C	NP_000511.2:n.1422-228A>C
NM_001318825.1:c.1455-228A>C	NP_001305754.1:n.1455-228A>C
NR_134869.1:n.1666-228A>C
NM_000520.6:c.1422-228A>C MANE Select	NP_000511.2:n.1422-228A>C
NM_001318825.2:c.1455-228A>C	NP_001305754.1:n.1455-228A>C
NR_134869.2:n.1207-228A>C
NR_134869.3:n.1207-228A>C