Canonical Allele Identifier: CA2581225323

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343447T>G , CM000677.2:g.72343447T>G	GRCh38
NC_000015.9:g.72635788T>G , CM000677.1:g.72635788T>G	GRCh37
NC_000015.8:g.70422842T>G	NCBI36
NG_009017.1:g.37733A>C
NG_009017.2:g.37733A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683243.1:c.*1373A>C	ENSP00000507042.1:n.*1373A>C
ENST00000684263.1:c.*1844A>C	ENSP00000508369.1:n.*1844A>C
ENST00000268097.10:c.*630A>C MANE Select	ENSP00000268097.6:n.*630A>C
ENST00000268097.9:c.*630A>C	ENSP00000268097.5:n.*630A>C
ENST00000379915.4:c.608+1999A>C	ENSP00000478716.1:n.608+1999A>C
NM_000520.4:c.*630A>C	NP_000511.2:n.*630A>C
NM_000520.5:c.*630A>C	NP_000511.2:n.*630A>C
NM_001318825.1:c.*630A>C	NP_001305754.1:n.*630A>C
NM_000520.6:c.*630A>C MANE Select	NP_000511.2:n.*630A>C
NM_001318825.2:c.*630A>C	NP_001305754.1:n.*630A>C