Canonical Allele Identifier: CA3306183

Gene: HEXB

Linked Data

• ClinVar Variation Id: 527971
• ClinVar RCV Id: RCV000633008 ; RCV002286417 ; RCV003153772 ; RCV002529814
• dbSNP Id: rs201580118
• ExAC: 5:74016442 G / A
• gnomAD v2: 5-74016442-G-A
• gnomAD v3: 5-74720617-G-A
• gnomAD v4: 5-74720617-G-A
• MyVariant Identifiers: chr5:g.74016442G>A (hg19) ; chr5:g.74720617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720617G>A , CM000667.2:g.74720617G>A	GRCh38
NC_000005.9:g.74016442G>A , CM000667.1:g.74016442G>A	GRCh37
NC_000005.8:g.74052198G>A	NCBI36
NG_009770.1:g.40474G>A
NG_011531.1:g.51601C>T
NG_009770.2:g.85595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1509-26G>A MANE Select	ENSP00000261416.7:n.1509-26G>A
ENST00000261416.11:c.1509-26G>A	ENSP00000261416.7:n.1509-26G>A
ENST00000503312.5:c.385-26G>A
ENST00000504459.5:n.706-26G>A
ENST00000505859.1:c.32-26G>A
ENST00000509579.1:c.-55-26G>A	ENSP00000424939.1:n.-55-26G>A
ENST00000511181.5:c.834-26G>A	ENSP00000426285.1:n.834-26G>A
ENST00000513336.5:c.445-26G>A
ENST00000513539.1:n.228-26G>A
NM_000521.3:c.1509-26G>A	NP_000512.1:n.1509-26G>A
NM_001292004.1:c.834-26G>A	NP_001278933.1:n.834-26G>A
NM_000521.4:c.1509-26G>A MANE Select	NP_000512.2:n.1509-26G>A
NM_001292004.2:c.834-26G>A	NP_001278933.1:n.834-26G>A