Canonical Allele Identifier: CA1555779401
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs1748940150
gnomAD v4: 5-74689204-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689204C>G , CM000667.2:g.74689204C>G GRCh38
NC_000005.9:g.73985029C>G , CM000667.1:g.73985029C>G GRCh37
NC_000005.8:g.74020785C>G NCBI36
NG_009770.1:g.9061C>G
NG_009770.2:g.54182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-124C>G MANE Select ENSP00000261416.7:n.300-124C>G
ENST00000261416.11:c.300-124C>G ENSP00000261416.7:n.300-124C>G
ENST00000511181.5:c.-376-124C>G ENSP00000426285.1:n.-376-124C>G
ENST00000513079.5:n.365-124C>G
ENST00000515528.1:n.355-124C>G
NM_000521.3:c.300-124C>G NP_000512.1:n.300-124C>G
NM_001292004.1:c.-376-124C>G NP_001278933.1:n.-376-124C>G
NM_000521.4:c.300-124C>G MANE Select NP_000512.2:n.300-124C>G
NM_001292004.2:c.-376-124C>G NP_001278933.1:n.-376-124C>G
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