Canonical Allele Identifier: CA272608861

Gene: HEXA

Linked Data

• dbSNP Id: rs996081388
• gnomAD v3: 15-72345256-T-G
• gnomAD v4: 15-72345256-T-G
• MyVariant Identifiers: chr15:g.72637597T>G (hg19) ; chr15:g.72345256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345256T>G , CM000677.2:g.72345256T>G	GRCh38
NC_000015.9:g.72637597T>G , CM000677.1:g.72637597T>G	GRCh37
NC_000015.8:g.70424651T>G	NCBI36
NG_009017.1:g.35924A>C
NG_009017.2:g.35924A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*376A>C	ENSP00000457521.2:n.*376A>C
ENST00000682061.1:c.*2062A>C	ENSP00000508316.1:n.*2062A>C
ENST00000682064.1:n.1753+190A>C
ENST00000682235.1:n.1549+190A>C
ENST00000682461.1:c.1632+190A>C	ENSP00000507308.1:n.1632+190A>C
ENST00000682653.1:n.2720A>C
ENST00000682657.1:c.*1553A>C	ENSP00000507753.1:n.*1553A>C
ENST00000682721.1:c.*1329+190A>C	ENSP00000507535.1:n.*1329+190A>C
ENST00000682843.1:c.*1167+190A>C	ENSP00000508173.1:n.*1167+190A>C
ENST00000683133.1:c.1710+190A>C	ENSP00000508108.1:n.1710+190A>C
ENST00000683243.1:c.*679+190A>C	ENSP00000507042.1:n.*679+190A>C
ENST00000683463.1:c.*1015+190A>C	ENSP00000507986.1:n.*1015+190A>C
ENST00000683548.1:n.1984+190A>C
ENST00000683579.1:c.*1424+190A>C	ENSP00000506867.1:n.*1424+190A>C
ENST00000683587.1:n.2057+190A>C
ENST00000683681.1:c.*204+190A>C	ENSP00000508110.1:n.*204+190A>C
ENST00000683735.1:c.*1924+190A>C	ENSP00000508336.1:n.*1924+190A>C
ENST00000683853.1:c.*521A>C	ENSP00000506834.1:n.*521A>C
ENST00000683860.1:c.*646+190A>C	ENSP00000507179.1:n.*646+190A>C
ENST00000684125.1:c.*186+190A>C	ENSP00000507320.1:n.*186+190A>C
ENST00000684203.1:n.3975+190A>C
ENST00000684231.1:c.*936+190A>C	ENSP00000507748.1:n.*936+190A>C
ENST00000684263.1:c.*1150+190A>C	ENSP00000508369.1:n.*1150+190A>C
ENST00000684305.1:c.1974+190A>C	ENSP00000506819.1:n.1974+190A>C
ENST00000684415.1:c.*1267A>C	ENSP00000507227.1:n.*1267A>C
ENST00000684520.1:c.*975A>C	ENSP00000506826.1:n.*975A>C
ENST00000684602.1:c.*1192+190A>C	ENSP00000507996.1:n.*1192+190A>C
ENST00000684667.1:c.1857+190A>C	ENSP00000507003.1:n.1857+190A>C
ENST00000268097.10:c.1526+190A>C MANE Select	ENSP00000268097.6:n.1526+190A>C
ENST00000268097.9:c.1526+190A>C	ENSP00000268097.5:n.1526+190A>C
ENST00000379915.4:c.608+190A>C	ENSP00000478716.1:n.608+190A>C
ENST00000564677.5:n.318+190A>C
ENST00000565873.1:n.437+190A>C
ENST00000566304.5:c.1559+190A>C	ENSP00000455114.1:n.1559+190A>C
ENST00000567027.5:c.1331A>C
ENST00000567411.5:c.*1047+190A>C	ENSP00000455545.1:n.*1047+190A>C
ENST00000569116.1:n.423A>C
NM_000520.4:c.1526+190A>C	NP_000511.2:n.1526+190A>C
NM_000520.5:c.1526+190A>C	NP_000511.2:n.1526+190A>C
NM_001318825.1:c.1559+190A>C	NP_001305754.1:n.1559+190A>C
NR_134869.1:n.1960A>C
NM_000520.6:c.1526+190A>C MANE Select	NP_000511.2:n.1526+190A>C
NM_001318825.2:c.1559+190A>C	NP_001305754.1:n.1559+190A>C
NR_134869.2:n.1501A>C
NR_134869.3:n.1501A>C