Canonical Allele Identifier: CA715469359

Gene: HEXA

Linked Data

• dbSNP Id: rs1477600918
• gnomAD v3: 15-72343449-T-C
• gnomAD v4: 15-72343449-T-C
• MyVariant Identifiers: chr15:g.72635790T>C (hg19) ; chr15:g.72343449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343449T>C , CM000677.2:g.72343449T>C	GRCh38
NC_000015.9:g.72635790T>C , CM000677.1:g.72635790T>C	GRCh37
NC_000015.8:g.70422844T>C	NCBI36
NG_009017.1:g.37731A>G
NG_009017.2:g.37731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683243.1:c.*1371A>G	ENSP00000507042.1:n.*1371A>G
ENST00000684263.1:c.*1842A>G	ENSP00000508369.1:n.*1842A>G
ENST00000268097.10:c.*628A>G MANE Select	ENSP00000268097.6:n.*628A>G
ENST00000268097.9:c.*628A>G	ENSP00000268097.5:n.*628A>G
ENST00000379915.4:c.608+1997A>G	ENSP00000478716.1:n.608+1997A>G
NM_000520.4:c.*628A>G	NP_000511.2:n.*628A>G
NM_000520.5:c.*628A>G	NP_000511.2:n.*628A>G
NM_001318825.1:c.*628A>G	NP_001305754.1:n.*628A>G
NM_000520.6:c.*628A>G MANE Select	NP_000511.2:n.*628A>G
NM_001318825.2:c.*628A>G	NP_001305754.1:n.*628A>G