Canonical Allele Identifier: CA6582844
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2246587
ClinVar RCV Id: RCV002776831
dbSNP Id: rs756012140
ExAC: 12:52913672 G / C
gnomAD v2: 12-52913672-G-C
gnomAD v3: 12-52519888-G-C
gnomAD v4: 12-52519888-G-C
MyVariant Identifiers: chr12:g.52913672G>C (hg19) chr12:g.52519888G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519888G>C , CM000674.2:g.52519888G>C GRCh38
NC_000012.11:g.52913672G>C , CM000674.1:g.52913672G>C GRCh37
NC_000012.10:g.51199939G>C NCBI36
NG_008297.1:g.5572C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.409C>G MANE Select ENSP00000252242.4:p.Pro137Ala
ENST00000252242.8:c.409C>G ENSP00000252242.4:p.Pro137Ala
ENST00000549420.1:c.79C>G ENSP00000447209.1:p.Pro27Ala
ENST00000551275.1:c.304C>G ENSP00000448041.1:p.Pro102Ala
ENST00000552629.5:n.507C>G
NM_000424.3:c.409C>G NP_000415.2:p.Pro137Ala
NM_000424.4:c.409C>G MANE Select NP_000415.2:p.Pro137Ala
Search 100 bp 5'
Search 100 bp 3'