Canonical Allele Identifier: CA2575781389

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376013A>C , CM000677.2:g.72376013A>C	GRCh38
NC_000015.9:g.72668354A>C , CM000677.1:g.72668354A>C	GRCh37
NC_000015.8:g.70455408A>C	NCBI36
NG_009017.1:g.5167T>G
NG_009017.2:g.5167T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.10:c.-41T>G MANE Select	ENSP00000268097.6:n.-41T>G
ENST00000268097.9:c.-41T>G	ENSP00000268097.5:n.-41T>G
ENST00000569509.5:n.147-182T>G
NM_000520.4:c.-41T>G	NP_000511.2:n.-41T>G
NM_000520.5:c.-41T>G	NP_000511.2:n.-41T>G
NM_001318825.1:c.-41T>G	NP_001305754.1:n.-41T>G
NR_134869.1:n.461T>G
NM_000520.6:c.-41T>G MANE Select	NP_000511.2:n.-41T>G
NM_001318825.2:c.-41T>G	NP_001305754.1:n.-41T>G
NR_134869.2:n.2T>G
NR_134869.3:n.2T>G