Canonical Allele Identifier: CA237229132
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs557717926
gnomAD v3: 12-52519853-A-G
gnomAD v4: 12-52519853-A-G
MyVariant Identifiers: chr12:g.52913637A>G (hg19) chr12:g.52519853A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519853A>G , CM000674.2:g.52519853A>G GRCh38
NC_000012.11:g.52913637A>G , CM000674.1:g.52913637A>G GRCh37
NC_000012.10:g.51199904A>G NCBI36
NG_008297.1:g.5607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.444T>C MANE Select ENSP00000252242.4:p.Ser148=
ENST00000252242.8:c.444T>C ENSP00000252242.4:p.Ser148=
ENST00000549420.1:c.114T>C ENSP00000447209.1:p.Ser38=
ENST00000551275.1:c.339T>C ENSP00000448041.1:p.Ser113=
ENST00000552629.5:n.542T>C
NM_000424.3:c.444T>C NP_000415.2:p.Ser148=
NM_000424.4:c.444T>C MANE Select NP_000415.2:p.Ser148=
Search 100 bp 5'
Search 100 bp 3'