Canonical Allele Identifier: CA393058547

Gene: HEXA

Linked Data

• dbSNP Id: rs1289802876
• gnomAD v2: 15-72637809-G-A
• MyVariant Identifiers: chr15:g.72637809G>A (hg19) ; chr15:g.72345468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345468G>A , CM000677.2:g.72345468G>A	GRCh38
NC_000015.9:g.72637809G>A , CM000677.1:g.72637809G>A	GRCh37
NC_000015.8:g.70424863G>A	NCBI36
NG_009017.1:g.35712C>T
NG_009017.2:g.35712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*164C>T	ENSP00000457521.2:n.*164C>T
ENST00000682061.1:c.*1850C>T	ENSP00000508316.1:n.*1850C>T
ENST00000682064.1:n.1731C>T
ENST00000682177.1:c.1547C>T	ENSP00000507409.1:n.1547C>T
ENST00000682235.1:n.1527C>T
ENST00000682461.1:c.1610C>T	ENSP00000507308.1:n.1610C>T
ENST00000682653.1:n.2508C>T
ENST00000682657.1:c.*1341C>T	ENSP00000507753.1:n.*1341C>T
ENST00000682721.1:c.*1307C>T	ENSP00000507535.1:n.*1307C>T
ENST00000682843.1:c.*1145C>T	ENSP00000508173.1:n.*1145C>T
ENST00000683003.1:c.*1341C>T	ENSP00000507576.1:n.*1341C>T
ENST00000683133.1:c.1688C>T	ENSP00000508108.1:n.1688C>T
ENST00000683243.1:c.*657C>T	ENSP00000507042.1:n.*657C>T
ENST00000683463.1:c.*993C>T	ENSP00000507986.1:n.*993C>T
ENST00000683548.1:n.1962C>T
ENST00000683579.1:c.*1402C>T	ENSP00000506867.1:n.*1402C>T
ENST00000683587.1:n.2035C>T
ENST00000683681.1:c.*182C>T	ENSP00000508110.1:n.*182C>T
ENST00000683735.1:c.*1902C>T	ENSP00000508336.1:n.*1902C>T
ENST00000683853.1:c.*309C>T	ENSP00000506834.1:n.*309C>T
ENST00000683860.1:c.*624C>T	ENSP00000507179.1:n.*624C>T
ENST00000683884.1:c.*831C>T	ENSP00000507004.1:n.*831C>T
ENST00000684041.1:c.*637C>T	ENSP00000508382.1:n.*637C>T
ENST00000684125.1:c.*164C>T	ENSP00000507320.1:n.*164C>T
ENST00000684203.1:n.3953C>T
ENST00000684231.1:c.*914C>T	ENSP00000507748.1:n.*914C>T
ENST00000684263.1:c.*1128C>T	ENSP00000508369.1:n.*1128C>T
ENST00000684305.1:c.1952C>T	ENSP00000506819.1:n.1952C>T
ENST00000684415.1:c.*1055C>T	ENSP00000507227.1:n.*1055C>T
ENST00000684520.1:c.*763C>T	ENSP00000506826.1:n.*763C>T
ENST00000684602.1:c.*1170C>T	ENSP00000507996.1:n.*1170C>T
ENST00000684667.1:c.1835C>T	ENSP00000507003.1:n.1835C>T
ENST00000268097.10:c.1504C>T MANE Select	ENSP00000268097.6:p.His502Tyr
ENST00000268097.9:c.1504C>T	ENSP00000268097.5:p.His502Tyr
ENST00000379915.4:c.586C>T	ENSP00000478716.1:p.His196Tyr
ENST00000564677.5:n.296C>T
ENST00000565873.1:n.415C>T
ENST00000566304.5:c.1537C>T	ENSP00000455114.1:p.His513Tyr
ENST00000567027.5:c.1119C>T
ENST00000567159.5:c.1504C>T	ENSP00000456489.1:p.His502Tyr
ENST00000567411.5:c.*1025C>T	ENSP00000455545.1:n.*1025C>T
ENST00000568777.5:n.6724C>T
ENST00000569116.1:n.211C>T
NM_000520.4:c.1504C>T	NP_000511.2:p.His502Tyr
NM_000520.5:c.1504C>T	NP_000511.2:p.His502Tyr
NM_001318825.1:c.1537C>T	NP_001305754.1:p.His513Tyr
NR_134869.1:n.1748C>T
NM_000520.6:c.1504C>T MANE Select	NP_000511.2:p.His502Tyr
NM_001318825.2:c.1537C>T	NP_001305754.1:p.His513Tyr
NR_134869.2:n.1289C>T
NR_134869.3:n.1289C>T