Canonical Allele Identifier: CA2186761675

Gene: HEXA

Linked Data

• dbSNP Id: rs2089064018
• gnomAD v4: 15-72376006-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376006C>T , CM000677.2:g.72376006C>T	GRCh38
NC_000015.9:g.72668347C>T , CM000677.1:g.72668347C>T	GRCh37
NC_000015.8:g.70455401C>T	NCBI36
NG_009017.1:g.5174G>A
NG_009017.2:g.5174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-34G>A	ENSP00000508110.1:n.-34G>A
ENST00000683860.1:c.-34G>A	ENSP00000507179.1:n.-34G>A
ENST00000684041.1:c.-34G>A	ENSP00000508382.1:n.-34G>A
ENST00000684520.1:c.-34G>A	ENSP00000506826.1:n.-34G>A
ENST00000268097.10:c.-34G>A MANE Select	ENSP00000268097.6:n.-34G>A
ENST00000268097.9:c.-34G>A	ENSP00000268097.5:n.-34G>A
ENST00000569509.5:n.147-175G>A
NM_000520.4:c.-34G>A	NP_000511.2:n.-34G>A
NM_000520.5:c.-34G>A	NP_000511.2:n.-34G>A
NM_001318825.1:c.-34G>A	NP_001305754.1:n.-34G>A
NR_134869.1:n.468G>A
NM_000520.6:c.-34G>A MANE Select	NP_000511.2:n.-34G>A
NM_001318825.2:c.-34G>A	NP_001305754.1:n.-34G>A
NR_134869.2:n.9G>A
NR_134869.3:n.9G>A