Canonical Allele Identifier: CA2186761681

Gene: HEXA

Linked Data

• dbSNP Id: rs2089064153

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376009C>A , CM000677.2:g.72376009C>A	GRCh38
NC_000015.9:g.72668350C>A , CM000677.1:g.72668350C>A	GRCh37
NC_000015.8:g.70455404C>A	NCBI36
NG_009017.1:g.5171G>T
NG_009017.2:g.5171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-37G>T	ENSP00000508110.1:n.-37G>T
ENST00000683860.1:c.-37G>T	ENSP00000507179.1:n.-37G>T
ENST00000684041.1:c.-37G>T	ENSP00000508382.1:n.-37G>T
ENST00000684520.1:c.-37G>T	ENSP00000506826.1:n.-37G>T
ENST00000268097.10:c.-37G>T MANE Select	ENSP00000268097.6:n.-37G>T
ENST00000268097.9:c.-37G>T	ENSP00000268097.5:n.-37G>T
ENST00000569509.5:n.147-178G>T
NM_000520.4:c.-37G>T	NP_000511.2:n.-37G>T
NM_000520.5:c.-37G>T	NP_000511.2:n.-37G>T
NM_001318825.1:c.-37G>T	NP_001305754.1:n.-37G>T
NR_134869.1:n.465G>T
NM_000520.6:c.-37G>T MANE Select	NP_000511.2:n.-37G>T
NM_001318825.2:c.-37G>T	NP_001305754.1:n.-37G>T
NR_134869.2:n.6G>T
NR_134869.3:n.6G>T