Canonical Allele Identifier: CA393058812

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637862A>G (hg19) ; chr15:g.72345521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345521A>G , CM000677.2:g.72345521A>G	GRCh38
NC_000015.9:g.72637862A>G , CM000677.1:g.72637862A>G	GRCh37
NC_000015.8:g.70424916A>G	NCBI36
NG_009017.1:g.35659T>C
NG_009017.2:g.35659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*111T>C	ENSP00000457521.2:n.*111T>C
ENST00000682061.1:c.*1797T>C	ENSP00000508316.1:n.*1797T>C
ENST00000682064.1:n.1678T>C
ENST00000682177.1:c.1494T>C	ENSP00000507409.1:n.1494T>C
ENST00000682235.1:n.1474T>C
ENST00000682461.1:c.1557T>C	ENSP00000507308.1:n.1557T>C
ENST00000682653.1:n.2455T>C
ENST00000682657.1:c.*1288T>C	ENSP00000507753.1:n.*1288T>C
ENST00000682721.1:c.*1254T>C	ENSP00000507535.1:n.*1254T>C
ENST00000682843.1:c.*1092T>C	ENSP00000508173.1:n.*1092T>C
ENST00000683003.1:c.*1288T>C	ENSP00000507576.1:n.*1288T>C
ENST00000683133.1:c.1635T>C	ENSP00000508108.1:n.1635T>C
ENST00000683243.1:c.*604T>C	ENSP00000507042.1:n.*604T>C
ENST00000683463.1:c.*940T>C	ENSP00000507986.1:n.*940T>C
ENST00000683548.1:n.1909T>C
ENST00000683579.1:c.*1349T>C	ENSP00000506867.1:n.*1349T>C
ENST00000683587.1:n.1982T>C
ENST00000683681.1:c.*129T>C	ENSP00000508110.1:n.*129T>C
ENST00000683735.1:c.*1849T>C	ENSP00000508336.1:n.*1849T>C
ENST00000683853.1:c.*256T>C	ENSP00000506834.1:n.*256T>C
ENST00000683860.1:c.*571T>C	ENSP00000507179.1:n.*571T>C
ENST00000683884.1:c.*778T>C	ENSP00000507004.1:n.*778T>C
ENST00000684041.1:c.*584T>C	ENSP00000508382.1:n.*584T>C
ENST00000684125.1:c.*111T>C	ENSP00000507320.1:n.*111T>C
ENST00000684203.1:n.3900T>C
ENST00000684231.1:c.*861T>C	ENSP00000507748.1:n.*861T>C
ENST00000684263.1:c.*1075T>C	ENSP00000508369.1:n.*1075T>C
ENST00000684305.1:c.1899T>C	ENSP00000506819.1:n.1899T>C
ENST00000684415.1:c.*1002T>C	ENSP00000507227.1:n.*1002T>C
ENST00000684520.1:c.*710T>C	ENSP00000506826.1:n.*710T>C
ENST00000684602.1:c.*1117T>C	ENSP00000507996.1:n.*1117T>C
ENST00000684667.1:c.1782T>C	ENSP00000507003.1:n.1782T>C
ENST00000268097.10:c.1451T>C MANE Select	ENSP00000268097.6:p.Leu484Pro
ENST00000268097.9:c.1451T>C	ENSP00000268097.5:p.Leu484Pro
ENST00000379915.4:c.533T>C	ENSP00000478716.1:p.Leu178Pro
ENST00000564677.5:n.243T>C
ENST00000565873.1:n.362T>C
ENST00000566304.5:c.1484T>C	ENSP00000455114.1:p.Leu495Pro
ENST00000567027.5:c.1066T>C
ENST00000567159.5:c.1451T>C	ENSP00000456489.1:p.Leu484Pro
ENST00000567411.5:c.*972T>C	ENSP00000455545.1:n.*972T>C
ENST00000568777.5:n.6671T>C
ENST00000569116.1:n.158T>C
NM_000520.4:c.1451T>C	NP_000511.2:p.Leu484Pro
NM_000520.5:c.1451T>C	NP_000511.2:p.Leu484Pro
NM_001318825.1:c.1484T>C	NP_001305754.1:p.Leu495Pro
NR_134869.1:n.1695T>C
NM_000520.6:c.1451T>C MANE Select	NP_000511.2:p.Leu484Pro
NM_001318825.2:c.1484T>C	NP_001305754.1:p.Leu495Pro
NR_134869.2:n.1236T>C
NR_134869.3:n.1236T>C