Canonical Allele Identifier: CA6819588

Gene: HSPB8

Linked Data

• dbSNP Id: rs773252853
• ExAC: 12:119624913 G / A
• gnomAD v2: 12-119624913-G-A
• gnomAD v4: 12-119187108-G-A
• MyVariant Identifiers: chr12:g.119624913G>A (hg19) ; chr12:g.119187108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187108G>A , CM000674.2:g.119187108G>A	GRCh38
NC_000012.11:g.119624913G>A , CM000674.1:g.119624913G>A	GRCh37
NC_000012.10:g.118109296G>A	NCBI36
NG_007953.2:g.13319G>A , LRG_249:g.13319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.431+20G>A MANE Select	ENSP00000281938.3:n.431+20G>A
ENST00000674542.1:c.368-6591G>A	ENSP00000502352.1:n.368-6591G>A
ENST00000674715.1:n.604+20G>A
ENST00000674763.1:c.64+20G>A
ENST00000674852.1:c.64+20G>A
ENST00000675110.1:c.64+20G>A
ENST00000675211.1:c.64+20G>A
ENST00000675573.1:c.64+20G>A
ENST00000675900.1:n.21+5072G>A
ENST00000676071.1:n.164+20G>A
ENST00000676244.1:n.137+20G>A
ENST00000281938.6:c.431+20G>A	ENSP00000281938.2:n.431+20G>A
ENST00000541798.1:c.154+20G>A
ENST00000542496.1:n.289+20G>A
NM_014365.2:c.431+20G>A , LRG_249t1:c.431+20G>A	NP_055180.1:n.431+20G>A
NM_014365.3:c.431+20G>A MANE Select	NP_055180.1:n.431+20G>A