Canonical Allele Identifier: CA10646584

Gene: HEXA

Linked Data

• ClinVar Variation Id: 317050
• ClinVar RCV Id: RCV000269335 ; RCV001836765
• dbSNP Id: rs147174351
• gnomAD v2: 15-72668372-C-T
• gnomAD v3: 15-72376031-C-T
• gnomAD v4: 15-72376031-C-T
• MyVariant Identifiers: chr15:g.72668372C>T (hg19) ; chr15:g.72376031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376031C>T , CM000677.2:g.72376031C>T	GRCh38
NC_000015.9:g.72668372C>T , CM000677.1:g.72668372C>T	GRCh37
NC_000015.8:g.70455426C>T	NCBI36
NG_009017.1:g.5149G>A
NG_009017.2:g.5149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-59G>A	ENSP00000268097.5:n.-59G>A
ENST00000569509.5:n.147-200G>A
NM_000520.4:c.-59G>A	NP_000511.2:n.-59G>A
NM_000520.5:c.-59G>A	NP_000511.2:n.-59G>A
NM_001318825.1:c.-59G>A	NP_001305754.1:n.-59G>A
NR_134869.1:n.443G>A