Canonical Allele Identifier: CA393058732

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637845T>G (hg19) ; chr15:g.72345504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345504T>G , CM000677.2:g.72345504T>G	GRCh38
NC_000015.9:g.72637845T>G , CM000677.1:g.72637845T>G	GRCh37
NC_000015.8:g.70424899T>G	NCBI36
NG_009017.1:g.35676A>C
NG_009017.2:g.35676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*128A>C	ENSP00000457521.2:n.*128A>C
ENST00000682061.1:c.*1814A>C	ENSP00000508316.1:n.*1814A>C
ENST00000682064.1:n.1695A>C
ENST00000682177.1:c.1511A>C	ENSP00000507409.1:n.1511A>C
ENST00000682235.1:n.1491A>C
ENST00000682461.1:c.1574A>C	ENSP00000507308.1:n.1574A>C
ENST00000682653.1:n.2472A>C
ENST00000682657.1:c.*1305A>C	ENSP00000507753.1:n.*1305A>C
ENST00000682721.1:c.*1271A>C	ENSP00000507535.1:n.*1271A>C
ENST00000682843.1:c.*1109A>C	ENSP00000508173.1:n.*1109A>C
ENST00000683003.1:c.*1305A>C	ENSP00000507576.1:n.*1305A>C
ENST00000683133.1:c.1652A>C	ENSP00000508108.1:n.1652A>C
ENST00000683243.1:c.*621A>C	ENSP00000507042.1:n.*621A>C
ENST00000683463.1:c.*957A>C	ENSP00000507986.1:n.*957A>C
ENST00000683548.1:n.1926A>C
ENST00000683579.1:c.*1366A>C	ENSP00000506867.1:n.*1366A>C
ENST00000683587.1:n.1999A>C
ENST00000683681.1:c.*146A>C	ENSP00000508110.1:n.*146A>C
ENST00000683735.1:c.*1866A>C	ENSP00000508336.1:n.*1866A>C
ENST00000683853.1:c.*273A>C	ENSP00000506834.1:n.*273A>C
ENST00000683860.1:c.*588A>C	ENSP00000507179.1:n.*588A>C
ENST00000683884.1:c.*795A>C	ENSP00000507004.1:n.*795A>C
ENST00000684041.1:c.*601A>C	ENSP00000508382.1:n.*601A>C
ENST00000684125.1:c.*128A>C	ENSP00000507320.1:n.*128A>C
ENST00000684203.1:n.3917A>C
ENST00000684231.1:c.*878A>C	ENSP00000507748.1:n.*878A>C
ENST00000684263.1:c.*1092A>C	ENSP00000508369.1:n.*1092A>C
ENST00000684305.1:c.1916A>C	ENSP00000506819.1:n.1916A>C
ENST00000684415.1:c.*1019A>C	ENSP00000507227.1:n.*1019A>C
ENST00000684520.1:c.*727A>C	ENSP00000506826.1:n.*727A>C
ENST00000684602.1:c.*1134A>C	ENSP00000507996.1:n.*1134A>C
ENST00000684667.1:c.1799A>C	ENSP00000507003.1:n.1799A>C
ENST00000268097.10:c.1468A>C MANE Select	ENSP00000268097.6:p.Thr490Pro
ENST00000268097.9:c.1468A>C	ENSP00000268097.5:p.Thr490Pro
ENST00000379915.4:c.550A>C	ENSP00000478716.1:p.Thr184Pro
ENST00000564677.5:n.260A>C
ENST00000565873.1:n.379A>C
ENST00000566304.5:c.1501A>C	ENSP00000455114.1:p.Thr501Pro
ENST00000567027.5:c.1083A>C
ENST00000567159.5:c.1468A>C	ENSP00000456489.1:p.Thr490Pro
ENST00000567411.5:c.*989A>C	ENSP00000455545.1:n.*989A>C
ENST00000568777.5:n.6688A>C
ENST00000569116.1:n.175A>C
NM_000520.4:c.1468A>C	NP_000511.2:p.Thr490Pro
NM_000520.5:c.1468A>C	NP_000511.2:p.Thr490Pro
NM_001318825.1:c.1501A>C	NP_001305754.1:p.Thr501Pro
NR_134869.1:n.1712A>C
NM_000520.6:c.1468A>C MANE Select	NP_000511.2:p.Thr490Pro
NM_001318825.2:c.1501A>C	NP_001305754.1:p.Thr501Pro
NR_134869.2:n.1253A>C
NR_134869.3:n.1253A>C