Canonical Allele Identifier: CA393058721

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637842A>G (hg19) ; chr15:g.72345501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345501A>G , CM000677.2:g.72345501A>G	GRCh38
NC_000015.9:g.72637842A>G , CM000677.1:g.72637842A>G	GRCh37
NC_000015.8:g.70424896A>G	NCBI36
NG_009017.1:g.35679T>C
NG_009017.2:g.35679T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*131T>C	ENSP00000457521.2:n.*131T>C
ENST00000682061.1:c.*1817T>C	ENSP00000508316.1:n.*1817T>C
ENST00000682064.1:n.1698T>C
ENST00000682177.1:c.1514T>C	ENSP00000507409.1:n.1514T>C
ENST00000682235.1:n.1494T>C
ENST00000682461.1:c.1577T>C	ENSP00000507308.1:n.1577T>C
ENST00000682653.1:n.2475T>C
ENST00000682657.1:c.*1308T>C	ENSP00000507753.1:n.*1308T>C
ENST00000682721.1:c.*1274T>C	ENSP00000507535.1:n.*1274T>C
ENST00000682843.1:c.*1112T>C	ENSP00000508173.1:n.*1112T>C
ENST00000683003.1:c.*1308T>C	ENSP00000507576.1:n.*1308T>C
ENST00000683133.1:c.1655T>C	ENSP00000508108.1:n.1655T>C
ENST00000683243.1:c.*624T>C	ENSP00000507042.1:n.*624T>C
ENST00000683463.1:c.*960T>C	ENSP00000507986.1:n.*960T>C
ENST00000683548.1:n.1929T>C
ENST00000683579.1:c.*1369T>C	ENSP00000506867.1:n.*1369T>C
ENST00000683587.1:n.2002T>C
ENST00000683681.1:c.*149T>C	ENSP00000508110.1:n.*149T>C
ENST00000683735.1:c.*1869T>C	ENSP00000508336.1:n.*1869T>C
ENST00000683853.1:c.*276T>C	ENSP00000506834.1:n.*276T>C
ENST00000683860.1:c.*591T>C	ENSP00000507179.1:n.*591T>C
ENST00000683884.1:c.*798T>C	ENSP00000507004.1:n.*798T>C
ENST00000684041.1:c.*604T>C	ENSP00000508382.1:n.*604T>C
ENST00000684125.1:c.*131T>C	ENSP00000507320.1:n.*131T>C
ENST00000684203.1:n.3920T>C
ENST00000684231.1:c.*881T>C	ENSP00000507748.1:n.*881T>C
ENST00000684263.1:c.*1095T>C	ENSP00000508369.1:n.*1095T>C
ENST00000684305.1:c.1919T>C	ENSP00000506819.1:n.1919T>C
ENST00000684415.1:c.*1022T>C	ENSP00000507227.1:n.*1022T>C
ENST00000684520.1:c.*730T>C	ENSP00000506826.1:n.*730T>C
ENST00000684602.1:c.*1137T>C	ENSP00000507996.1:n.*1137T>C
ENST00000684667.1:c.1802T>C	ENSP00000507003.1:n.1802T>C
ENST00000268097.10:c.1471T>C MANE Select	ENSP00000268097.6:p.Ser491Pro
ENST00000268097.9:c.1471T>C	ENSP00000268097.5:p.Ser491Pro
ENST00000379915.4:c.553T>C	ENSP00000478716.1:p.Ser185Pro
ENST00000564677.5:n.263T>C
ENST00000565873.1:n.382T>C
ENST00000566304.5:c.1504T>C	ENSP00000455114.1:p.Ser502Pro
ENST00000567027.5:c.1086T>C
ENST00000567159.5:c.1471T>C	ENSP00000456489.1:p.Ser491Pro
ENST00000567411.5:c.*992T>C	ENSP00000455545.1:n.*992T>C
ENST00000568777.5:n.6691T>C
ENST00000569116.1:n.178T>C
NM_000520.4:c.1471T>C	NP_000511.2:p.Ser491Pro
NM_000520.5:c.1471T>C	NP_000511.2:p.Ser491Pro
NM_001318825.1:c.1504T>C	NP_001305754.1:p.Ser502Pro
NR_134869.1:n.1715T>C
NM_000520.6:c.1471T>C MANE Select	NP_000511.2:p.Ser491Pro
NM_001318825.2:c.1504T>C	NP_001305754.1:p.Ser502Pro
NR_134869.2:n.1256T>C
NR_134869.3:n.1256T>C