Canonical Allele Identifier: CA116487
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74720648G>A
GRCh37 chr5:g.74016473G>A
Revel Score:
ENST00000511181 0.951
ENST00000261416 (MANE Select) 0.951
gnomAD v2:
5:74016473 G / A
gnomAD v3:
5:74720648 G / A
gnomAD v4:
chr5-74720648-G-A
Joint Max Group AF 0.00004284 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00004265 (NFE)
ClinVar RCV:
RCV000004083
RCV000669552
ClinVar Variation:
3879
dbSNP:
121907983
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'