Canonical Allele Identifier: CA116487

Gene: HEXB

Linked Data

• ClinVar Variation Id: 3879
• ClinVar RCV Id: RCV000004083 ; RCV000669552
• dbSNP Id: rs121907983
• ExAC: 5:74016473 G / A
• gnomAD v2: 5-74016473-G-A
• gnomAD v3: 5-74720648-G-A
• gnomAD v4: 5-74720648-G-A
• MyVariant Identifiers: chr5:g.74016473G>A (hg19) ; chr5:g.74720648G>A (hg38)
• PubMed: PMID:571983 ; PMID:2948136 ; PMID:8357844

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720648G>A , CM000667.2:g.74720648G>A	GRCh38
NC_000005.9:g.74016473G>A , CM000667.1:g.74016473G>A	GRCh37
NC_000005.8:g.74052229G>A	NCBI36
NG_009770.1:g.40505G>A
NG_011531.1:g.51570C>T
NG_009770.2:g.85626G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1514G>A MANE Select	ENSP00000261416.7:p.Arg505Gln
ENST00000261416.11:c.1514G>A	ENSP00000261416.7:p.Arg505Gln
ENST00000503312.5:c.390G>A
ENST00000504459.5:n.711G>A
ENST00000505859.1:c.37G>A
ENST00000509579.1:c.-50G>A	ENSP00000424939.1:n.-50G>A
ENST00000511181.5:c.839G>A	ENSP00000426285.1:p.Arg280Gln
ENST00000513336.5:c.450G>A
ENST00000513539.1:n.233G>A
NM_000521.3:c.1514G>A	NP_000512.1:p.Arg505Gln
NM_001292004.1:c.839G>A	NP_001278933.1:p.Arg280Gln
NM_000521.4:c.1514G>A MANE Select	NP_000512.2:p.Arg505Gln
NM_001292004.2:c.839G>A	NP_001278933.1:p.Arg280Gln