Canonical Allele Identifier: CA384929851
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1237453275
gnomAD v2: 12-52913761-A-T
gnomAD v3: 12-52519977-A-T
gnomAD v4: 12-52519977-A-T
MyVariant Identifiers: chr12:g.52913761A>T (hg19) chr12:g.52519977A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519977A>T , CM000674.2:g.52519977A>T GRCh38
NC_000012.11:g.52913761A>T , CM000674.1:g.52913761A>T GRCh37
NC_000012.10:g.51200028A>T NCBI36
NG_008297.1:g.5483T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.320T>A MANE Select ENSP00000252242.4:p.Phe107Tyr
ENST00000252242.8:c.320T>A ENSP00000252242.4:p.Phe107Tyr
ENST00000546577.1:c.320T>A ENSP00000449651.1:p.Phe107Tyr
ENST00000549420.1:c.44-54T>A ENSP00000447209.1:n.44-54T>A
ENST00000551275.1:c.215T>A ENSP00000448041.1:p.Phe72Tyr
ENST00000552629.5:n.418T>A
NM_000424.3:c.320T>A NP_000415.2:p.Phe107Tyr
NM_000424.4:c.320T>A MANE Select NP_000415.2:p.Phe107Tyr
Search 100 bp 5'
Search 100 bp 3'