Canonical Allele Identifier: CA2621253712
Gene: HSPB8 HGNC NCBI

Linked Data

gnomAD v4: 12-119187022-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119187022C>A , CM000674.2:g.119187022C>A GRCh38
NC_000012.11:g.119624827C>A , CM000674.1:g.119624827C>A GRCh37
NC_000012.10:g.118109210C>A NCBI36
NG_007953.2:g.13233C>A , LRG_249:g.13233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281938.7:c.368-3C>A MANE Select ENSP00000281938.3:n.368-3C>A
ENST00000674542.1:c.368-6677C>A ENSP00000502352.1:n.368-6677C>A
ENST00000674715.1:n.541-3C>A
ENST00000675900.1:n.21+4986C>A
ENST00000676071.1:n.101-3C>A
ENST00000676244.1:n.74-3C>A
ENST00000281938.6:c.368-3C>A ENSP00000281938.2:n.368-3C>A
ENST00000541798.1:c.91-3C>A
ENST00000542496.1:n.223C>A
NM_014365.2:c.368-3C>A , LRG_249t1:c.368-3C>A NP_055180.1:n.368-3C>A
NM_014365.3:c.368-3C>A MANE Select NP_055180.1:n.368-3C>A
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