Canonical Allele Identifier: CA237229509
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 880894
ClinVar RCV Id: RCV001109500
dbSNP Id: rs1047343874
gnomAD v2: 12-52914003-A-C
gnomAD v4: 12-52520219-A-C
MyVariant Identifiers: chr12:g.52914003A>C (hg19) chr12:g.52520219A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520219A>C , CM000674.2:g.52520219A>C GRCh38
NC_000012.11:g.52914003A>C , CM000674.1:g.52914003A>C GRCh37
NC_000012.10:g.51200270A>C NCBI36
NG_008297.1:g.5241T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.78T>G MANE Select ENSP00000252242.4:p.Ser26=
ENST00000252242.8:c.78T>G ENSP00000252242.4:p.Ser26=
ENST00000546577.1:c.78T>G ENSP00000449651.1:p.Ser26=
ENST00000549420.1:c.43+35T>G ENSP00000447209.1:n.43+35T>G
ENST00000551275.1:c.78T>G ENSP00000448041.1:p.Ser26=
ENST00000552629.5:n.176T>G
NM_000424.3:c.78T>G NP_000415.2:p.Ser26=
NM_000424.4:c.78T>G MANE Select NP_000415.2:p.Ser26=
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