Canonical Allele Identifier: CA2674240520
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74718708-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718708T>C , CM000667.2:g.74718708T>C GRCh38
NC_000005.9:g.74014533T>C , CM000667.1:g.74014533T>C GRCh37
NC_000005.8:g.74050289T>C NCBI36
NG_009770.1:g.38565T>C
NG_009770.2:g.83686T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.1243-89T>C MANE Select ENSP00000261416.7:n.1243-89T>C
ENST00000261416.11:c.1243-89T>C ENSP00000261416.7:n.1243-89T>C
ENST00000503312.5:c.119-89T>C
ENST00000504459.5:n.440-89T>C
ENST00000511181.5:c.568-89T>C ENSP00000426285.1:n.568-89T>C
ENST00000513336.5:c.179-89T>C
ENST00000513539.1:n.74-201T>C
NM_000521.3:c.1243-89T>C NP_000512.1:n.1243-89T>C
NM_001292004.1:c.568-89T>C NP_001278933.1:n.568-89T>C
NM_000521.4:c.1243-89T>C MANE Select NP_000512.2:n.1243-89T>C
NM_001292004.2:c.568-89T>C NP_001278933.1:n.568-89T>C
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