Canonical Allele Identifier: CA6582858
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs368543262
ExAC: 12:52913729 C / G
gnomAD v2: 12-52913729-C-G
gnomAD v3: 12-52519945-C-G
gnomAD v4: 12-52519945-C-G
MyVariant Identifiers: chr12:g.52913729C>G (hg19) chr12:g.52519945C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519945C>G , CM000674.2:g.52519945C>G GRCh38
NC_000012.11:g.52913729C>G , CM000674.1:g.52913729C>G GRCh37
NC_000012.10:g.51199996C>G NCBI36
NG_008297.1:g.5515G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.352G>C MANE Select ENSP00000252242.4:p.Gly118Arg
ENST00000252242.8:c.352G>C ENSP00000252242.4:p.Gly118Arg
ENST00000546577.1:c.352G>C ENSP00000449651.1:p.Gly118Arg
ENST00000549420.1:c.44-22G>C ENSP00000447209.1:n.44-22G>C
ENST00000551275.1:c.247G>C ENSP00000448041.1:p.Gly83Arg
ENST00000552629.5:n.450G>C
NM_000424.3:c.352G>C NP_000415.2:p.Gly118Arg
NM_000424.4:c.352G>C MANE Select NP_000415.2:p.Gly118Arg
Search 100 bp 5'
Search 100 bp 3'