Canonical Allele Identifier: CA2629344048

Gene: HEXA

Linked Data

• gnomAD v4: 15-72375994-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375994G>A , CM000677.2:g.72375994G>A	GRCh38
NC_000015.9:g.72668335G>A , CM000677.1:g.72668335G>A	GRCh37
NC_000015.8:g.70455389G>A	NCBI36
NG_009017.1:g.5186C>T
NG_009017.2:g.5186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.-22C>T	ENSP00000457521.2:n.-22C>T
ENST00000682653.1:n.10C>T
ENST00000683228.1:n.10C>T
ENST00000683463.1:c.-22C>T	ENSP00000507986.1:n.-22C>T
ENST00000683548.1:n.10C>T
ENST00000683587.1:n.10C>T
ENST00000683681.1:c.-22C>T	ENSP00000508110.1:n.-22C>T
ENST00000683853.1:c.-22C>T	ENSP00000506834.1:n.-22C>T
ENST00000683860.1:c.-22C>T	ENSP00000507179.1:n.-22C>T
ENST00000683884.1:c.-22C>T	ENSP00000507004.1:n.-22C>T
ENST00000684041.1:c.-22C>T	ENSP00000508382.1:n.-22C>T
ENST00000684125.1:c.-22C>T	ENSP00000507320.1:n.-22C>T
ENST00000684263.1:c.-22C>T	ENSP00000508369.1:n.-22C>T
ENST00000684415.1:c.-22C>T	ENSP00000507227.1:n.-22C>T
ENST00000684520.1:c.-22C>T	ENSP00000506826.1:n.-22C>T
ENST00000268097.10:c.-22C>T MANE Select	ENSP00000268097.6:n.-22C>T
ENST00000268097.9:c.-22C>T	ENSP00000268097.5:n.-22C>T
ENST00000566672.5:c.-22C>T	ENSP00000457037.1:n.-22C>T
ENST00000567411.5:c.-22C>T	ENSP00000455545.1:n.-22C>T
ENST00000569509.5:n.147-163C>T
NM_000520.4:c.-22C>T	NP_000511.2:n.-22C>T
NM_000520.5:c.-22C>T	NP_000511.2:n.-22C>T
NM_001318825.1:c.-22C>T	NP_001305754.1:n.-22C>T
NR_134869.1:n.480C>T
NM_000520.6:c.-22C>T MANE Select	NP_000511.2:n.-22C>T
NM_001318825.2:c.-22C>T	NP_001305754.1:n.-22C>T
NR_134869.2:n.21C>T
NR_134869.3:n.21C>T