Canonical Allele Identifier: CA6582850
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 309567
ClinVar RCV Id: RCV000379036 RCV002056309
dbSNP Id: rs150390099
ExAC: 12:52913700 G / A
gnomAD v2: 12-52913700-G-A
gnomAD v3: 12-52519916-G-A
gnomAD v4: 12-52519916-G-A
MyVariant Identifiers: chr12:g.52913700G>A (hg19) chr12:g.52519916G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519916G>A , CM000674.2:g.52519916G>A GRCh38
NC_000012.11:g.52913700G>A , CM000674.1:g.52913700G>A GRCh37
NC_000012.10:g.51199967G>A NCBI36
NG_008297.1:g.5544C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.381C>T MANE Select ENSP00000252242.4:p.Phe127=
ENST00000252242.8:c.381C>T ENSP00000252242.4:p.Phe127=
ENST00000546577.1:c.381C>T ENSP00000449651.1:p.Phe127=
ENST00000549420.1:c.51C>T ENSP00000447209.1:p.Phe17=
ENST00000551275.1:c.276C>T ENSP00000448041.1:p.Phe92=
ENST00000552629.5:n.479C>T
NM_000424.3:c.381C>T NP_000415.2:p.Phe127=
NM_000424.4:c.381C>T MANE Select NP_000415.2:p.Phe127=
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Search 100 bp 3'