Canonical Allele Identifier: CA393058677

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637830A>G (hg19) ; chr15:g.72345489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345489A>G , CM000677.2:g.72345489A>G	GRCh38
NC_000015.9:g.72637830A>G , CM000677.1:g.72637830A>G	GRCh37
NC_000015.8:g.70424884A>G	NCBI36
NG_009017.1:g.35691T>C
NG_009017.2:g.35691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*143T>C	ENSP00000457521.2:n.*143T>C
ENST00000682061.1:c.*1829T>C	ENSP00000508316.1:n.*1829T>C
ENST00000682064.1:n.1710T>C
ENST00000682177.1:c.1526T>C	ENSP00000507409.1:n.1526T>C
ENST00000682235.1:n.1506T>C
ENST00000682461.1:c.1589T>C	ENSP00000507308.1:n.1589T>C
ENST00000682653.1:n.2487T>C
ENST00000682657.1:c.*1320T>C	ENSP00000507753.1:n.*1320T>C
ENST00000682721.1:c.*1286T>C	ENSP00000507535.1:n.*1286T>C
ENST00000682843.1:c.*1124T>C	ENSP00000508173.1:n.*1124T>C
ENST00000683003.1:c.*1320T>C	ENSP00000507576.1:n.*1320T>C
ENST00000683133.1:c.1667T>C	ENSP00000508108.1:n.1667T>C
ENST00000683243.1:c.*636T>C	ENSP00000507042.1:n.*636T>C
ENST00000683463.1:c.*972T>C	ENSP00000507986.1:n.*972T>C
ENST00000683548.1:n.1941T>C
ENST00000683579.1:c.*1381T>C	ENSP00000506867.1:n.*1381T>C
ENST00000683587.1:n.2014T>C
ENST00000683681.1:c.*161T>C	ENSP00000508110.1:n.*161T>C
ENST00000683735.1:c.*1881T>C	ENSP00000508336.1:n.*1881T>C
ENST00000683853.1:c.*288T>C	ENSP00000506834.1:n.*288T>C
ENST00000683860.1:c.*603T>C	ENSP00000507179.1:n.*603T>C
ENST00000683884.1:c.*810T>C	ENSP00000507004.1:n.*810T>C
ENST00000684041.1:c.*616T>C	ENSP00000508382.1:n.*616T>C
ENST00000684125.1:c.*143T>C	ENSP00000507320.1:n.*143T>C
ENST00000684203.1:n.3932T>C
ENST00000684231.1:c.*893T>C	ENSP00000507748.1:n.*893T>C
ENST00000684263.1:c.*1107T>C	ENSP00000508369.1:n.*1107T>C
ENST00000684305.1:c.1931T>C	ENSP00000506819.1:n.1931T>C
ENST00000684415.1:c.*1034T>C	ENSP00000507227.1:n.*1034T>C
ENST00000684520.1:c.*742T>C	ENSP00000506826.1:n.*742T>C
ENST00000684602.1:c.*1149T>C	ENSP00000507996.1:n.*1149T>C
ENST00000684667.1:c.1814T>C	ENSP00000507003.1:n.1814T>C
ENST00000268097.10:c.1483T>C MANE Select	ENSP00000268097.6:p.Phe495Leu
ENST00000268097.9:c.1483T>C	ENSP00000268097.5:p.Phe495Leu
ENST00000379915.4:c.565T>C	ENSP00000478716.1:p.Phe189Leu
ENST00000564677.5:n.275T>C
ENST00000565873.1:n.394T>C
ENST00000566304.5:c.1516T>C	ENSP00000455114.1:p.Phe506Leu
ENST00000567027.5:c.1098T>C
ENST00000567159.5:c.1483T>C	ENSP00000456489.1:p.Phe495Leu
ENST00000567411.5:c.*1004T>C	ENSP00000455545.1:n.*1004T>C
ENST00000568777.5:n.6703T>C
ENST00000569116.1:n.190T>C
NM_000520.4:c.1483T>C	NP_000511.2:p.Phe495Leu
NM_000520.5:c.1483T>C	NP_000511.2:p.Phe495Leu
NM_001318825.1:c.1516T>C	NP_001305754.1:p.Phe506Leu
NR_134869.1:n.1727T>C
NM_000520.6:c.1483T>C MANE Select	NP_000511.2:p.Phe495Leu
NM_001318825.2:c.1516T>C	NP_001305754.1:p.Phe506Leu
NR_134869.2:n.1268T>C
NR_134869.3:n.1268T>C