Canonical Allele Identifier: CA241354
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 195082
ClinVar RCV Id: RCV000175617 RCV001270125 RCV004020082
dbSNP Id: rs762209256
ExAC: 5:73985164 A / G
gnomAD v2: 5-73985164-A-G
gnomAD v3: 5-74689339-A-G
gnomAD v4: 5-74689339-A-G
MyVariant Identifiers: chr5:g.73985164A>G (hg19) chr5:g.74689339A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689339A>G , CM000667.2:g.74689339A>G GRCh38
NC_000005.9:g.73985164A>G , CM000667.1:g.73985164A>G GRCh37
NC_000005.8:g.74020920A>G NCBI36
NG_009770.1:g.9196A>G
NG_009770.2:g.54317A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.311A>G MANE Select ENSP00000261416.7:p.Tyr104Cys
ENST00000261416.11:c.311A>G ENSP00000261416.7:p.Tyr104Cys
ENST00000511181.5:c.-365A>G ENSP00000426285.1:n.-365A>G
ENST00000513079.5:n.376A>G
ENST00000515528.1:n.366A>G
NM_000521.3:c.311A>G NP_000512.1:p.Tyr104Cys
NM_001292004.1:c.-365A>G NP_001278933.1:n.-365A>G
NM_000521.4:c.311A>G MANE Select NP_000512.2:p.Tyr104Cys
NM_001292004.2:c.-365A>G NP_001278933.1:n.-365A>G
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