Canonical Allele Identifier: CA393058566

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637812A>G (hg19) ; chr15:g.72345471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345471A>G , CM000677.2:g.72345471A>G	GRCh38
NC_000015.9:g.72637812A>G , CM000677.1:g.72637812A>G	GRCh37
NC_000015.8:g.70424866A>G	NCBI36
NG_009017.1:g.35709T>C
NG_009017.2:g.35709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*161T>C	ENSP00000457521.2:n.*161T>C
ENST00000682061.1:c.*1847T>C	ENSP00000508316.1:n.*1847T>C
ENST00000682064.1:n.1728T>C
ENST00000682177.1:c.1544T>C	ENSP00000507409.1:n.1544T>C
ENST00000682235.1:n.1524T>C
ENST00000682461.1:c.1607T>C	ENSP00000507308.1:n.1607T>C
ENST00000682653.1:n.2505T>C
ENST00000682657.1:c.*1338T>C	ENSP00000507753.1:n.*1338T>C
ENST00000682721.1:c.*1304T>C	ENSP00000507535.1:n.*1304T>C
ENST00000682843.1:c.*1142T>C	ENSP00000508173.1:n.*1142T>C
ENST00000683003.1:c.*1338T>C	ENSP00000507576.1:n.*1338T>C
ENST00000683133.1:c.1685T>C	ENSP00000508108.1:n.1685T>C
ENST00000683243.1:c.*654T>C	ENSP00000507042.1:n.*654T>C
ENST00000683463.1:c.*990T>C	ENSP00000507986.1:n.*990T>C
ENST00000683548.1:n.1959T>C
ENST00000683579.1:c.*1399T>C	ENSP00000506867.1:n.*1399T>C
ENST00000683587.1:n.2032T>C
ENST00000683681.1:c.*179T>C	ENSP00000508110.1:n.*179T>C
ENST00000683735.1:c.*1899T>C	ENSP00000508336.1:n.*1899T>C
ENST00000683853.1:c.*306T>C	ENSP00000506834.1:n.*306T>C
ENST00000683860.1:c.*621T>C	ENSP00000507179.1:n.*621T>C
ENST00000683884.1:c.*828T>C	ENSP00000507004.1:n.*828T>C
ENST00000684041.1:c.*634T>C	ENSP00000508382.1:n.*634T>C
ENST00000684125.1:c.*161T>C	ENSP00000507320.1:n.*161T>C
ENST00000684203.1:n.3950T>C
ENST00000684231.1:c.*911T>C	ENSP00000507748.1:n.*911T>C
ENST00000684263.1:c.*1125T>C	ENSP00000508369.1:n.*1125T>C
ENST00000684305.1:c.1949T>C	ENSP00000506819.1:n.1949T>C
ENST00000684415.1:c.*1052T>C	ENSP00000507227.1:n.*1052T>C
ENST00000684520.1:c.*760T>C	ENSP00000506826.1:n.*760T>C
ENST00000684602.1:c.*1167T>C	ENSP00000507996.1:n.*1167T>C
ENST00000684667.1:c.1832T>C	ENSP00000507003.1:n.1832T>C
ENST00000268097.10:c.1501T>C MANE Select	ENSP00000268097.6:p.Ser501Pro
ENST00000268097.9:c.1501T>C	ENSP00000268097.5:p.Ser501Pro
ENST00000379915.4:c.583T>C	ENSP00000478716.1:p.Ser195Pro
ENST00000564677.5:n.293T>C
ENST00000565873.1:n.412T>C
ENST00000566304.5:c.1534T>C	ENSP00000455114.1:p.Ser512Pro
ENST00000567027.5:c.1116T>C
ENST00000567159.5:c.1501T>C	ENSP00000456489.1:p.Ser501Pro
ENST00000567411.5:c.*1022T>C	ENSP00000455545.1:n.*1022T>C
ENST00000568777.5:n.6721T>C
ENST00000569116.1:n.208T>C
NM_000520.4:c.1501T>C	NP_000511.2:p.Ser501Pro
NM_000520.5:c.1501T>C	NP_000511.2:p.Ser501Pro
NM_001318825.1:c.1534T>C	NP_001305754.1:p.Ser512Pro
NR_134869.1:n.1745T>C
NM_000520.6:c.1501T>C MANE Select	NP_000511.2:p.Ser501Pro
NM_001318825.2:c.1534T>C	NP_001305754.1:p.Ser512Pro
NR_134869.2:n.1286T>C
NR_134869.3:n.1286T>C