Canonical Allele Identifier: CA393058646

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637824A>G (hg19) ; chr15:g.72345483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345483A>G , CM000677.2:g.72345483A>G	GRCh38
NC_000015.9:g.72637824A>G , CM000677.1:g.72637824A>G	GRCh37
NC_000015.8:g.70424878A>G	NCBI36
NG_009017.1:g.35697T>C
NG_009017.2:g.35697T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*149T>C	ENSP00000457521.2:n.*149T>C
ENST00000682061.1:c.*1835T>C	ENSP00000508316.1:n.*1835T>C
ENST00000682064.1:n.1716T>C
ENST00000682177.1:c.1532T>C	ENSP00000507409.1:n.1532T>C
ENST00000682235.1:n.1512T>C
ENST00000682461.1:c.1595T>C	ENSP00000507308.1:n.1595T>C
ENST00000682653.1:n.2493T>C
ENST00000682657.1:c.*1326T>C	ENSP00000507753.1:n.*1326T>C
ENST00000682721.1:c.*1292T>C	ENSP00000507535.1:n.*1292T>C
ENST00000682843.1:c.*1130T>C	ENSP00000508173.1:n.*1130T>C
ENST00000683003.1:c.*1326T>C	ENSP00000507576.1:n.*1326T>C
ENST00000683133.1:c.1673T>C	ENSP00000508108.1:n.1673T>C
ENST00000683243.1:c.*642T>C	ENSP00000507042.1:n.*642T>C
ENST00000683463.1:c.*978T>C	ENSP00000507986.1:n.*978T>C
ENST00000683548.1:n.1947T>C
ENST00000683579.1:c.*1387T>C	ENSP00000506867.1:n.*1387T>C
ENST00000683587.1:n.2020T>C
ENST00000683681.1:c.*167T>C	ENSP00000508110.1:n.*167T>C
ENST00000683735.1:c.*1887T>C	ENSP00000508336.1:n.*1887T>C
ENST00000683853.1:c.*294T>C	ENSP00000506834.1:n.*294T>C
ENST00000683860.1:c.*609T>C	ENSP00000507179.1:n.*609T>C
ENST00000683884.1:c.*816T>C	ENSP00000507004.1:n.*816T>C
ENST00000684041.1:c.*622T>C	ENSP00000508382.1:n.*622T>C
ENST00000684125.1:c.*149T>C	ENSP00000507320.1:n.*149T>C
ENST00000684203.1:n.3938T>C
ENST00000684231.1:c.*899T>C	ENSP00000507748.1:n.*899T>C
ENST00000684263.1:c.*1113T>C	ENSP00000508369.1:n.*1113T>C
ENST00000684305.1:c.1937T>C	ENSP00000506819.1:n.1937T>C
ENST00000684415.1:c.*1040T>C	ENSP00000507227.1:n.*1040T>C
ENST00000684520.1:c.*748T>C	ENSP00000506826.1:n.*748T>C
ENST00000684602.1:c.*1155T>C	ENSP00000507996.1:n.*1155T>C
ENST00000684667.1:c.1820T>C	ENSP00000507003.1:n.1820T>C
ENST00000268097.10:c.1489T>C MANE Select	ENSP00000268097.6:p.Tyr497His
ENST00000268097.9:c.1489T>C	ENSP00000268097.5:p.Tyr497His
ENST00000379915.4:c.571T>C	ENSP00000478716.1:p.Tyr191His
ENST00000564677.5:n.281T>C
ENST00000565873.1:n.400T>C
ENST00000566304.5:c.1522T>C	ENSP00000455114.1:p.Tyr508His
ENST00000567027.5:c.1104T>C
ENST00000567159.5:c.1489T>C	ENSP00000456489.1:p.Tyr497His
ENST00000567411.5:c.*1010T>C	ENSP00000455545.1:n.*1010T>C
ENST00000568777.5:n.6709T>C
ENST00000569116.1:n.196T>C
NM_000520.4:c.1489T>C	NP_000511.2:p.Tyr497His
NM_000520.5:c.1489T>C	NP_000511.2:p.Tyr497His
NM_001318825.1:c.1522T>C	NP_001305754.1:p.Tyr508His
NR_134869.1:n.1733T>C
NM_000520.6:c.1489T>C MANE Select	NP_000511.2:p.Tyr497His
NM_001318825.2:c.1522T>C	NP_001305754.1:p.Tyr508His
NR_134869.2:n.1274T>C
NR_134869.3:n.1274T>C