Canonical Allele Identifier: CA2674238020
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74689231-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689231T>C , CM000667.2:g.74689231T>C GRCh38
NC_000005.9:g.73985056T>C , CM000667.1:g.73985056T>C GRCh37
NC_000005.8:g.74020812T>C NCBI36
NG_009770.1:g.9088T>C
NG_009770.2:g.54209T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-97T>C MANE Select ENSP00000261416.7:n.300-97T>C
ENST00000261416.11:c.300-97T>C ENSP00000261416.7:n.300-97T>C
ENST00000511181.5:c.-376-97T>C ENSP00000426285.1:n.-376-97T>C
ENST00000513079.5:n.365-97T>C
ENST00000515528.1:n.355-97T>C
NM_000521.3:c.300-97T>C NP_000512.1:n.300-97T>C
NM_001292004.1:c.-376-97T>C NP_001278933.1:n.-376-97T>C
NM_000521.4:c.300-97T>C MANE Select NP_000512.2:n.300-97T>C
NM_001292004.2:c.-376-97T>C NP_001278933.1:n.-376-97T>C
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