Canonical Allele Identifier: CA393058838

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637868T>G (hg19) ; chr15:g.72345527T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345527T>G , CM000677.2:g.72345527T>G	GRCh38
NC_000015.9:g.72637868T>G , CM000677.1:g.72637868T>G	GRCh37
NC_000015.8:g.70424922T>G	NCBI36
NG_009017.1:g.35653A>C
NG_009017.2:g.35653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*105A>C	ENSP00000457521.2:n.*105A>C
ENST00000682061.1:c.*1791A>C	ENSP00000508316.1:n.*1791A>C
ENST00000682064.1:n.1672A>C
ENST00000682177.1:c.1488A>C	ENSP00000507409.1:n.1488A>C
ENST00000682235.1:n.1468A>C
ENST00000682461.1:c.1551A>C	ENSP00000507308.1:n.1551A>C
ENST00000682653.1:n.2449A>C
ENST00000682657.1:c.*1282A>C	ENSP00000507753.1:n.*1282A>C
ENST00000682721.1:c.*1248A>C	ENSP00000507535.1:n.*1248A>C
ENST00000682843.1:c.*1086A>C	ENSP00000508173.1:n.*1086A>C
ENST00000683003.1:c.*1282A>C	ENSP00000507576.1:n.*1282A>C
ENST00000683133.1:c.1629A>C	ENSP00000508108.1:n.1629A>C
ENST00000683243.1:c.*598A>C	ENSP00000507042.1:n.*598A>C
ENST00000683463.1:c.*934A>C	ENSP00000507986.1:n.*934A>C
ENST00000683548.1:n.1903A>C
ENST00000683579.1:c.*1343A>C	ENSP00000506867.1:n.*1343A>C
ENST00000683587.1:n.1976A>C
ENST00000683681.1:c.*123A>C	ENSP00000508110.1:n.*123A>C
ENST00000683735.1:c.*1843A>C	ENSP00000508336.1:n.*1843A>C
ENST00000683853.1:c.*250A>C	ENSP00000506834.1:n.*250A>C
ENST00000683860.1:c.*565A>C	ENSP00000507179.1:n.*565A>C
ENST00000683884.1:c.*772A>C	ENSP00000507004.1:n.*772A>C
ENST00000684041.1:c.*578A>C	ENSP00000508382.1:n.*578A>C
ENST00000684125.1:c.*105A>C	ENSP00000507320.1:n.*105A>C
ENST00000684203.1:n.3894A>C
ENST00000684231.1:c.*855A>C	ENSP00000507748.1:n.*855A>C
ENST00000684263.1:c.*1069A>C	ENSP00000508369.1:n.*1069A>C
ENST00000684305.1:c.1893A>C	ENSP00000506819.1:n.1893A>C
ENST00000684415.1:c.*996A>C	ENSP00000507227.1:n.*996A>C
ENST00000684520.1:c.*704A>C	ENSP00000506826.1:n.*704A>C
ENST00000684602.1:c.*1111A>C	ENSP00000507996.1:n.*1111A>C
ENST00000684667.1:c.1776A>C	ENSP00000507003.1:n.1776A>C
ENST00000268097.10:c.1445A>C MANE Select	ENSP00000268097.6:p.Glu482Ala
ENST00000268097.9:c.1445A>C	ENSP00000268097.5:p.Glu482Ala
ENST00000379915.4:c.527A>C	ENSP00000478716.1:p.Glu176Ala
ENST00000564677.5:n.237A>C
ENST00000565873.1:n.356A>C
ENST00000566304.5:c.1478A>C	ENSP00000455114.1:p.Glu493Ala
ENST00000567027.5:c.1060A>C
ENST00000567159.5:c.1445A>C	ENSP00000456489.1:p.Glu482Ala
ENST00000567411.5:c.*966A>C	ENSP00000455545.1:n.*966A>C
ENST00000568777.5:n.6665A>C
ENST00000569116.1:n.152A>C
NM_000520.4:c.1445A>C	NP_000511.2:p.Glu482Ala
NM_000520.5:c.1445A>C	NP_000511.2:p.Glu482Ala
NM_001318825.1:c.1478A>C	NP_001305754.1:p.Glu493Ala
NR_134869.1:n.1689A>C
NM_000520.6:c.1445A>C MANE Select	NP_000511.2:p.Glu482Ala
NM_001318825.2:c.1478A>C	NP_001305754.1:p.Glu493Ala
NR_134869.2:n.1230A>C
NR_134869.3:n.1230A>C