Canonical Allele Identifier: CA10647380

Gene: HEXA HEXA-AS1

Linked Data

• ClinVar Variation Id: 317053
• ClinVar RCV Id: RCV000265963 ; RCV001567832
• dbSNP Id: rs77707876
• gnomAD v2: 15-72668480-C-T
• gnomAD v3: 15-72376139-C-T
• gnomAD v4: 15-72376139-C-T
• MyVariant Identifiers: chr15:g.72668480C>T (hg19) ; chr15:g.72376139C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376139C>T , CM000677.2:g.72376139C>T	GRCh38
NC_000015.9:g.72668480C>T , CM000677.1:g.72668480C>T	GRCh37
NC_000015.8:g.70455534C>T	NCBI36
NG_009017.1:g.5041G>A
NG_009017.2:g.5041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-167G>A (HEXA)	ENSP00000268097.5:n.-167G>A
ENST00000569509.5:n.146+136G>A (HEXA)
NM_000520.4:c.-167G>A (HEXA)	NP_000511.2:n.-167G>A
NR_027262.1:n.27C>T (HEXA-AS1)
NM_000520.5:c.-167G>A (HEXA)	NP_000511.2:n.-167G>A
NM_001318825.1:c.-167G>A (HEXA)	NP_001305754.1:n.-167G>A
NR_134869.1:n.335G>A (HEXA)