Canonical Allele Identifier: CA10646570

Gene: HEXA

Linked Data

• ClinVar Variation Id: 317032
• ClinVar RCV Id: RCV000259986
• dbSNP Id: rs35949555
• gnomAD v2: 15-72635788-T-C
• gnomAD v3: 15-72343447-T-C
• gnomAD v4: 15-72343447-T-C
• MyVariant Identifiers: chr15:g.72635788T>C (hg19) ; chr15:g.72343447T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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