Canonical Allele Identifier: CA393058432

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637790A>G (hg19) ; chr15:g.72345449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345449A>G , CM000677.2:g.72345449A>G	GRCh38
NC_000015.9:g.72637790A>G , CM000677.1:g.72637790A>G	GRCh37
NC_000015.8:g.70424844A>G	NCBI36
NG_009017.1:g.35731T>C
NG_009017.2:g.35731T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*183T>C	ENSP00000457521.2:n.*183T>C
ENST00000682061.1:c.*1869T>C	ENSP00000508316.1:n.*1869T>C
ENST00000682064.1:n.1750T>C
ENST00000682177.1:c.1566T>C	ENSP00000507409.1:n.1566T>C
ENST00000682235.1:n.1546T>C
ENST00000682461.1:c.1629T>C	ENSP00000507308.1:n.1629T>C
ENST00000682653.1:n.2527T>C
ENST00000682657.1:c.*1360T>C	ENSP00000507753.1:n.*1360T>C
ENST00000682721.1:c.*1326T>C	ENSP00000507535.1:n.*1326T>C
ENST00000682843.1:c.*1164T>C	ENSP00000508173.1:n.*1164T>C
ENST00000683003.1:c.*1360T>C	ENSP00000507576.1:n.*1360T>C
ENST00000683133.1:c.1707T>C	ENSP00000508108.1:n.1707T>C
ENST00000683243.1:c.*676T>C	ENSP00000507042.1:n.*676T>C
ENST00000683463.1:c.*1012T>C	ENSP00000507986.1:n.*1012T>C
ENST00000683548.1:n.1981T>C
ENST00000683579.1:c.*1421T>C	ENSP00000506867.1:n.*1421T>C
ENST00000683587.1:n.2054T>C
ENST00000683681.1:c.*201T>C	ENSP00000508110.1:n.*201T>C
ENST00000683735.1:c.*1921T>C	ENSP00000508336.1:n.*1921T>C
ENST00000683853.1:c.*328T>C	ENSP00000506834.1:n.*328T>C
ENST00000683860.1:c.*643T>C	ENSP00000507179.1:n.*643T>C
ENST00000683884.1:c.*850T>C	ENSP00000507004.1:n.*850T>C
ENST00000684125.1:c.*183T>C	ENSP00000507320.1:n.*183T>C
ENST00000684203.1:n.3972T>C
ENST00000684231.1:c.*933T>C	ENSP00000507748.1:n.*933T>C
ENST00000684263.1:c.*1147T>C	ENSP00000508369.1:n.*1147T>C
ENST00000684305.1:c.1971T>C	ENSP00000506819.1:n.1971T>C
ENST00000684415.1:c.*1074T>C	ENSP00000507227.1:n.*1074T>C
ENST00000684520.1:c.*782T>C	ENSP00000506826.1:n.*782T>C
ENST00000684602.1:c.*1189T>C	ENSP00000507996.1:n.*1189T>C
ENST00000684667.1:c.1854T>C	ENSP00000507003.1:n.1854T>C
ENST00000268097.10:c.1523T>C MANE Select	ENSP00000268097.6:p.Leu508Pro
ENST00000268097.9:c.1523T>C	ENSP00000268097.5:p.Leu508Pro
ENST00000379915.4:c.605T>C	ENSP00000478716.1:p.Leu202Pro
ENST00000564677.5:n.315T>C
ENST00000565873.1:n.434T>C
ENST00000566304.5:c.1556T>C	ENSP00000455114.1:p.Leu519Pro
ENST00000567027.5:c.1138T>C
ENST00000567159.5:c.1523T>C	ENSP00000456489.1:p.Leu508Pro
ENST00000567411.5:c.*1044T>C	ENSP00000455545.1:n.*1044T>C
ENST00000568777.5:n.6743T>C
ENST00000569116.1:n.230T>C
NM_000520.4:c.1523T>C	NP_000511.2:p.Leu508Pro
NM_000520.5:c.1523T>C	NP_000511.2:p.Leu508Pro
NM_001318825.1:c.1556T>C	NP_001305754.1:p.Leu519Pro
NR_134869.1:n.1767T>C
NM_000520.6:c.1523T>C MANE Select	NP_000511.2:p.Leu508Pro
NM_001318825.2:c.1556T>C	NP_001305754.1:p.Leu519Pro
NR_134869.2:n.1308T>C
NR_134869.3:n.1308T>C