Canonical Allele Identifier: CA6582848
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs758678109
ExAC: 12:52913695 C / A
gnomAD v2: 12-52913695-C-A
gnomAD v3: 12-52519911-C-A
gnomAD v4: 12-52519911-C-A
MyVariant Identifiers: chr12:g.52913695C>A (hg19) chr12:g.52519911C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519911C>A , CM000674.2:g.52519911C>A GRCh38
NC_000012.11:g.52913695C>A , CM000674.1:g.52913695C>A GRCh37
NC_000012.10:g.51199962C>A NCBI36
NG_008297.1:g.5549G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.386G>T MANE Select ENSP00000252242.4:p.Gly129Val
ENST00000252242.8:c.386G>T ENSP00000252242.4:p.Gly129Val
ENST00000546577.1:c.386G>T ENSP00000449651.1:p.Gly129Val
ENST00000549420.1:c.56G>T ENSP00000447209.1:p.Gly19Val
ENST00000551275.1:c.281G>T ENSP00000448041.1:p.Gly94Val
ENST00000552629.5:n.484G>T
NM_000424.3:c.386G>T NP_000415.2:p.Gly129Val
NM_000424.4:c.386G>T MANE Select NP_000415.2:p.Gly129Val
Search 100 bp 5'
Search 100 bp 3'