Canonical Allele Identifier: CA203234

Gene: HEXB

Linked Data

• ClinVar Variation Id: 167174
• ClinVar RCV Id: RCV000179319 ; RCV001329340
• dbSNP Id: rs727503959
• gnomAD v4: 5-74705325-G-C
• MyVariant Identifiers: chr5:g.74001150G>C (hg19) ; chr5:g.74705325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74705325G>C , CM000667.2:g.74705325G>C	GRCh38
NC_000005.9:g.74001150G>C , CM000667.1:g.74001150G>C	GRCh37
NC_000005.8:g.74036906G>C	NCBI36
NG_009770.1:g.25182G>C
NG_009770.2:g.70303G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.771+5G>C MANE Select	ENSP00000261416.7:n.771+5G>C
ENST00000261416.11:c.771+5G>C	ENSP00000261416.7:n.771+5G>C
ENST00000511181.5:c.96+5G>C	ENSP00000426285.1:n.96+5G>C
ENST00000513079.5:n.841G>C
NM_000521.3:c.771+5G>C	NP_000512.1:n.771+5G>C
NM_001292004.1:c.96+5G>C	NP_001278933.1:n.96+5G>C
NM_000521.4:c.771+5G>C MANE Select	NP_000512.2:n.771+5G>C
NM_001292004.2:c.96+5G>C	NP_001278933.1:n.96+5G>C