Canonical Allele Identifier: CA2629343784

Gene: HEXA

Linked Data

• gnomAD v4: 15-72376014-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376014G>T , CM000677.2:g.72376014G>T	GRCh38
NC_000015.9:g.72668355G>T , CM000677.1:g.72668355G>T	GRCh37
NC_000015.8:g.70455409G>T	NCBI36
NG_009017.1:g.5166C>A
NG_009017.2:g.5166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.10:c.-42C>A MANE Select	ENSP00000268097.6:n.-42C>A
ENST00000268097.9:c.-42C>A	ENSP00000268097.5:n.-42C>A
ENST00000569509.5:n.147-183C>A
NM_000520.4:c.-42C>A	NP_000511.2:n.-42C>A
NM_000520.5:c.-42C>A	NP_000511.2:n.-42C>A
NM_001318825.1:c.-42C>A	NP_001305754.1:n.-42C>A
NR_134869.1:n.460C>A
NM_000520.6:c.-42C>A MANE Select	NP_000511.2:n.-42C>A
NM_001318825.2:c.-42C>A	NP_001305754.1:n.-42C>A
NR_134869.2:n.1C>A
NR_134869.3:n.1C>A