Canonical Allele Identifier: CA393058871

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2076566
• ClinVar RCV Id: RCV002972379
• MyVariant Identifiers: chr15:g.72637878C>G (hg19) ; chr15:g.72345537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345537C>G , CM000677.2:g.72345537C>G	GRCh38
NC_000015.9:g.72637878C>G , CM000677.1:g.72637878C>G	GRCh37
NC_000015.8:g.70424932C>G	NCBI36
NG_009017.1:g.35643G>C
NG_009017.2:g.35643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*95G>C	ENSP00000457521.2:n.*95G>C
ENST00000682061.1:c.*1781G>C	ENSP00000508316.1:n.*1781G>C
ENST00000682064.1:n.1662G>C
ENST00000682177.1:c.1478G>C	ENSP00000507409.1:n.1478G>C
ENST00000682235.1:n.1458G>C
ENST00000682461.1:c.1541G>C	ENSP00000507308.1:n.1541G>C
ENST00000682653.1:n.2439G>C
ENST00000682657.1:c.*1272G>C	ENSP00000507753.1:n.*1272G>C
ENST00000682721.1:c.*1238G>C	ENSP00000507535.1:n.*1238G>C
ENST00000682843.1:c.*1076G>C	ENSP00000508173.1:n.*1076G>C
ENST00000683003.1:c.*1272G>C	ENSP00000507576.1:n.*1272G>C
ENST00000683133.1:c.1619G>C	ENSP00000508108.1:n.1619G>C
ENST00000683243.1:c.*588G>C	ENSP00000507042.1:n.*588G>C
ENST00000683463.1:c.*924G>C	ENSP00000507986.1:n.*924G>C
ENST00000683548.1:n.1893G>C
ENST00000683579.1:c.*1333G>C	ENSP00000506867.1:n.*1333G>C
ENST00000683587.1:n.1966G>C
ENST00000683681.1:c.*113G>C	ENSP00000508110.1:n.*113G>C
ENST00000683735.1:c.*1833G>C	ENSP00000508336.1:n.*1833G>C
ENST00000683853.1:c.*240G>C	ENSP00000506834.1:n.*240G>C
ENST00000683860.1:c.*555G>C	ENSP00000507179.1:n.*555G>C
ENST00000683884.1:c.*762G>C	ENSP00000507004.1:n.*762G>C
ENST00000684041.1:c.*568G>C	ENSP00000508382.1:n.*568G>C
ENST00000684125.1:c.*95G>C	ENSP00000507320.1:n.*95G>C
ENST00000684203.1:n.3884G>C
ENST00000684231.1:c.*845G>C	ENSP00000507748.1:n.*845G>C
ENST00000684263.1:c.*1059G>C	ENSP00000508369.1:n.*1059G>C
ENST00000684305.1:c.1883G>C	ENSP00000506819.1:n.1883G>C
ENST00000684415.1:c.*986G>C	ENSP00000507227.1:n.*986G>C
ENST00000684520.1:c.*694G>C	ENSP00000506826.1:n.*694G>C
ENST00000684602.1:c.*1101G>C	ENSP00000507996.1:n.*1101G>C
ENST00000684667.1:c.1766G>C	ENSP00000507003.1:n.1766G>C
ENST00000268097.10:c.1435G>C MANE Select	ENSP00000268097.6:p.Ala479Pro
ENST00000268097.9:c.1435G>C	ENSP00000268097.5:p.Ala479Pro
ENST00000379915.4:c.517G>C	ENSP00000478716.1:p.Ala173Pro
ENST00000564677.5:n.227G>C
ENST00000565873.1:n.346G>C
ENST00000566304.5:c.1468G>C	ENSP00000455114.1:p.Ala490Pro
ENST00000567027.5:c.1050G>C
ENST00000567159.5:c.1435G>C	ENSP00000456489.1:p.Ala479Pro
ENST00000567411.5:c.*956G>C	ENSP00000455545.1:n.*956G>C
ENST00000568777.5:n.6655G>C
ENST00000569116.1:n.142G>C
NM_000520.4:c.1435G>C	NP_000511.2:p.Ala479Pro
NM_000520.5:c.1435G>C	NP_000511.2:p.Ala479Pro
NM_001318825.1:c.1468G>C	NP_001305754.1:p.Ala490Pro
NR_134869.1:n.1679G>C
NM_000520.6:c.1435G>C MANE Select	NP_000511.2:p.Ala479Pro
NM_001318825.2:c.1468G>C	NP_001305754.1:p.Ala490Pro
NR_134869.2:n.1220G>C
NR_134869.3:n.1220G>C