Canonical Allele Identifier: CA234120

Gene: HEXB

Linked Data

• ClinVar Variation Id: 167176
• ClinVar RCV Id: RCV000153360 ; RCV000674784
• dbSNP Id: rs727503961
• MyVariant Identifiers: chr5:g.74016981G>A (hg19) ; chr5:g.74721156G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721156G>A , CM000667.2:g.74721156G>A	GRCh38
NC_000005.9:g.74016981G>A , CM000667.1:g.74016981G>A	GRCh37
NC_000005.8:g.74052737G>A	NCBI36
NG_009770.1:g.41013G>A
NG_011531.1:g.51062C>T
NG_009770.2:g.86134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1652G>A MANE Select	ENSP00000261416.7:p.Cys551Tyr
ENST00000261416.11:c.1652G>A	ENSP00000261416.7:p.Cys551Tyr
ENST00000503312.5:c.490-162G>A
ENST00000505859.1:c.137-162G>A
ENST00000509579.1:c.89G>A	ENSP00000424939.1:p.Cys30Tyr
ENST00000511181.5:c.977G>A	ENSP00000426285.1:p.Cys326Tyr
ENST00000513336.5:c.588G>A
ENST00000513539.1:n.371G>A
ENST00000513867.1:n.100G>A
NM_000521.3:c.1652G>A	NP_000512.1:p.Cys551Tyr
NM_001292004.1:c.977G>A	NP_001278933.1:p.Cys326Tyr
NM_000521.4:c.1652G>A MANE Select	NP_000512.2:p.Cys551Tyr
NM_001292004.2:c.977G>A	NP_001278933.1:p.Cys326Tyr