Canonical Allele Identifier: CA237229239
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs376691972
gnomAD v2: 12-52913760-G-A
gnomAD v3: 12-52519976-G-A
gnomAD v4: 12-52519976-G-A
MyVariant Identifiers: chr12:g.52913760G>A (hg19) chr12:g.52519976G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519976G>A , CM000674.2:g.52519976G>A GRCh38
NC_000012.11:g.52913760G>A , CM000674.1:g.52913760G>A GRCh37
NC_000012.10:g.51200027G>A NCBI36
NG_008297.1:g.5484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.321C>T MANE Select ENSP00000252242.4:p.Phe107=
ENST00000252242.8:c.321C>T ENSP00000252242.4:p.Phe107=
ENST00000546577.1:c.321C>T ENSP00000449651.1:p.Phe107=
ENST00000549420.1:c.44-53C>T ENSP00000447209.1:n.44-53C>T
ENST00000551275.1:c.216C>T ENSP00000448041.1:p.Phe72=
ENST00000552629.5:n.419C>T
NM_000424.3:c.321C>T NP_000415.2:p.Phe107=
NM_000424.4:c.321C>T MANE Select NP_000415.2:p.Phe107=
Search 100 bp 5'
Search 100 bp 3'