Canonical Allele Identifier: CA6582827
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs267607443
ExAC: 12:52913532 G / A
gnomAD v2: 12-52913532-G-A
gnomAD v4: 12-52519748-G-A
COSMIC: COSM2010785
MyVariant Identifiers: chr12:g.52913532G>A (hg19) chr12:g.52519748G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519748G>A , CM000674.2:g.52519748G>A GRCh38
NC_000012.11:g.52913532G>A , CM000674.1:g.52913532G>A GRCh37
NC_000012.10:g.51199799G>A NCBI36
NG_008297.1:g.5712C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.549C>T MANE Select ENSP00000252242.4:p.Ile183=
ENST00000252242.8:c.549C>T ENSP00000252242.4:p.Ile183=
ENST00000549420.1:c.219C>T ENSP00000447209.1:p.Ile73=
ENST00000552629.5:n.647C>T
NM_000424.3:c.549C>T NP_000415.2:p.Ile183=
NM_000424.4:c.549C>T MANE Select NP_000415.2:p.Ile183=
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Search 100 bp 3'