Canonical Allele Identifier: CA2186761758

Gene: HEXA

Linked Data

• dbSNP Id: rs2089065279
• gnomAD v4: 15-72376063-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376063G>A , CM000677.2:g.72376063G>A	GRCh38
NC_000015.9:g.72668404G>A , CM000677.1:g.72668404G>A	GRCh37
NC_000015.8:g.70455458G>A	NCBI36
NG_009017.1:g.5117C>T
NG_009017.2:g.5117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-91C>T	ENSP00000268097.5:n.-91C>T
ENST00000569509.5:n.146+212C>T
NM_000520.4:c.-91C>T	NP_000511.2:n.-91C>T
NM_000520.5:c.-91C>T	NP_000511.2:n.-91C>T
NM_001318825.1:c.-91C>T	NP_001305754.1:n.-91C>T
NR_134869.1:n.411C>T