Canonical Allele Identifier: CA2674238034
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74689261-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689261A>G , CM000667.2:g.74689261A>G GRCh38
NC_000005.9:g.73985086A>G , CM000667.1:g.73985086A>G GRCh37
NC_000005.8:g.74020842A>G NCBI36
NG_009770.1:g.9118A>G
NG_009770.2:g.54239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-67A>G MANE Select ENSP00000261416.7:n.300-67A>G
ENST00000261416.11:c.300-67A>G ENSP00000261416.7:n.300-67A>G
ENST00000511181.5:c.-376-67A>G ENSP00000426285.1:n.-376-67A>G
ENST00000513079.5:n.365-67A>G
ENST00000515528.1:n.355-67A>G
NM_000521.3:c.300-67A>G NP_000512.1:n.300-67A>G
NM_001292004.1:c.-376-67A>G NP_001278933.1:n.-376-67A>G
NM_000521.4:c.300-67A>G MANE Select NP_000512.2:n.300-67A>G
NM_001292004.2:c.-376-67A>G NP_001278933.1:n.-376-67A>G
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