Canonical Allele Identifier: CA221070

Gene: HEXB

Linked Data

• ClinVar Variation Id: 93200
• ClinVar RCV Id: RCV000079062 ; RCV001854394
• dbSNP Id: rs398123448
• ExAC: 5:74016974 G / A
• gnomAD v2: 5-74016974-G-A
• gnomAD v4: 5-74721149-G-A
• MyVariant Identifiers: chr5:g.74016974G>A (hg19) ; chr5:g.74721149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721149G>A , CM000667.2:g.74721149G>A	GRCh38
NC_000005.9:g.74016974G>A , CM000667.1:g.74016974G>A	GRCh37
NC_000005.8:g.74052730G>A	NCBI36
NG_009770.1:g.41006G>A
NG_011531.1:g.51069C>T
NG_009770.2:g.86127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1645G>A MANE Select	ENSP00000261416.7:p.Gly549Arg
ENST00000261416.11:c.1645G>A	ENSP00000261416.7:p.Gly549Arg
ENST00000503312.5:c.490-169G>A
ENST00000505859.1:c.137-169G>A
ENST00000509579.1:c.82G>A	ENSP00000424939.1:p.Gly28Arg
ENST00000511181.5:c.970G>A	ENSP00000426285.1:p.Gly324Arg
ENST00000513336.5:c.581G>A
ENST00000513539.1:n.364G>A
ENST00000513867.1:n.93G>A
NM_000521.3:c.1645G>A	NP_000512.1:p.Gly549Arg
NM_001292004.1:c.970G>A	NP_001278933.1:p.Gly324Arg
NM_000521.4:c.1645G>A MANE Select	NP_000512.2:p.Gly549Arg
NM_001292004.2:c.970G>A	NP_001278933.1:p.Gly324Arg