Canonical Allele Identifier: CA6582833
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs573548957
ExAC: 12:52913570 G / T
gnomAD v2: 12-52913570-G-T
gnomAD v3: 12-52519786-G-T
gnomAD v4: 12-52519786-G-T
MyVariant Identifiers: chr12:g.52913570G>T (hg19) chr12:g.52519786G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519786G>T , CM000674.2:g.52519786G>T GRCh38
NC_000012.11:g.52913570G>T , CM000674.1:g.52913570G>T GRCh37
NC_000012.10:g.51199837G>T NCBI36
NG_008297.1:g.5674C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.511C>A MANE Select ENSP00000252242.4:p.Gln171Lys
ENST00000252242.8:c.511C>A ENSP00000252242.4:p.Gln171Lys
ENST00000549420.1:c.181C>A ENSP00000447209.1:p.Gln61Lys
ENST00000551275.1:c.406C>A ENSP00000448041.1:p.Gln136Lys
ENST00000552629.5:n.609C>A
NM_000424.3:c.511C>A NP_000415.2:p.Gln171Lys
NM_000424.4:c.511C>A MANE Select NP_000415.2:p.Gln171Lys
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